Heidi Splete

Immediate umbilical cord milking or delayed clamping of the umbilical cord had no significant impact on maternal outcomes, but infants were significantly more likely to experience severe intraventricular hemorrhage with umbilical cord milking, according to results of two studies published in JAMA.

arztsamui/Thinkstock

“While the evidence for neonatal benefit with delayed cord clamping at term is strong, data related to maternal outcomes, particularly after cesarean delivery, are largely lacking,” wrote Stephanie E. Purisch, MD, of Columbia University Irving Medical Center, New York, and colleagues.

In a randomized trial of 113 women who underwent cesarean deliveries of singleton infants, the researchers hypothesized that maternal blood loss would be greater with delayed cord clamping (JAMA. 2019 Nov 19. doi: 10.1001/jama.2019.15995).

However, maternal blood loss, based on mean hemoglobin levels 1 day after delivery, was not significantly different between the delayed group (10.1 g/dL) and the immediate group (98 g/dL). The median time to cord clamping was 63 seconds in the delayed group and 6 seconds in the immediate group.

In addition, no significant differences occurred in 15 of 19 prespecified secondary outcomes. However, mean neonatal hemoglobin levels were significantly higher with delayed clamping, compared with levels associated with immediate clamping among 90 neonates for whom data were available (18.1 g/dL vs. 16.4 g/dL; P less than .001).

The results were limited by factors including lack of generalizability to other situations such as emergency or preterm deliveries and by the lack of a definition of a “clinically important postoperative hemoglobin change,” the researchers noted. However, the results show no significant impact of umbilical cord management on maternal hemoglobin in the study population.

In another study published in JAMA, Anup Katheria, MD, of Sharp Mary Birch Hospital for Women & Newborns, San Diego, and colleagues found no significant difference in rates of a composite outcome of death or severe intraventricular hemorrhage among infants randomized to umbilical cord milking (12%) vs. delayed umbilical cord clamping (8%). However, immediate umbilical cord milking was significantly associated with a higher rate of intraventricular hemorrhage alone, compared with delayed clamping (8% vs. 3%), and this signal of risk prompted the researchers to terminate the study earlier than intended.

The researchers randomized 474 infants born at less than 32 weeks’ gestation to umbilical cord milking or delayed umbilical cord clamping (JAMA. 2019 Nov 19. doi: 10.1001/jama.2019.16004). The study was conducted at six sites in the United States and one site each in Ireland, Germany, and Canada between June 2017 and September 2018. “Because of the importance of long-term neurodevelopment, all surviving infants will be followed up to determine developmental outcomes at 22 to 26 months’ corrected gestational age,” they said.

The study was terminated early, which prevents definitive conclusions, the researchers noted, but a new study has been approved to compare umbilical cord milking with delayed umbilical cord clamping in infants of 30-32 weeks’ gestational age, they said.

“Although the safety of placental transfusion for the mother seems well established, it remains unclear which method of providing placental transfusion is best for the infant: delayed clamping and cutting the cord or milking the intact cord. The latter provides a transfusion more rapidly, which may facilitate initiation of resuscitation when needed,” Heike Rabe, MD, of the University of Sussex, Brighton, and Ola Andersson, PhD, of Lund (Sweden) University, wrote in an editorial accompanying the two studies (JAMA. 2019 Nov 19;322:1864-5. doi: 10.1001/jama.2019.16003).

The 8% incidence of severe intraventricular hemorrhage in the umbilical milking group in the study by Katheria and colleagues was higher than the 5.2% in a recent Cochrane review, but the 3% incidence of severe intraventricular hemorrhage in the delayed group was lower than the 4.5% in the Cochrane review, they said.

“Umbilical cord milking has been used in many hospitals without an increase in intraventricular hemorrhage being observed,” they noted.

“The study by Purisch et al. demonstrated the safety of delayed cord clamping for mothers delivering by cesarean at term,” the editorialists wrote. Studies are underway to identify the best techniques for cord clamping, they said.

“In the meantime, clinicians should follow the World Health Organization recommendation to delay cord clamping and cutting for 1 to 3 minutes for term infants and for at least 60 seconds for preterm infants to prevent iron deficiency and potentially enable more premature infants to survive,” they concluded.

Dr. Purisch received funding from the Maternal-Fetal Medicine Fellow Research Fund for the first study. Coauthor Cynthia Gyamfi-Bannerman, MD, reported receiving grants from the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the Society for Maternal-Fetal Medicine/AMAG Pharmaceuticals, and personal fees from Sera Prognostics outside the submitted work. The second study was supported by NICHD in a grant to Dr. Katheria, who had no financial conflicts to disclose. Coauthor Gary Cutter, PhD, had numerous ties to pharmaceutical companies. The editorialists had no financial conflicts to disclose.

SOURCES: Purisch SE et al. JAMA. 2019 Nov 19. doi: 10.1001/jama.2019.15995; Katheria A et al. JAMA. 2019 Nov 19. doi: 10.1001/jama.2019.16004; Rabe H and Andersson O. JAMA. 2019 Nov 19; 322:1864-5.

Immediate umbilical cord milking or delayed clamping of the umbilical cord had no significant impact on maternal outcomes, but infants were significantly more likely to experience severe intraventricular hemorrhage with umbilical cord milking, according to results of two studies published in JAMA.

arztsamui/Thinkstock

“While the evidence for neonatal benefit with delayed cord clamping at term is strong, data related to maternal outcomes, particularly after cesarean delivery, are largely lacking,” wrote Stephanie E. Purisch, MD, of Columbia University Irving Medical Center, New York, and colleagues.

In a randomized trial of 113 women who underwent cesarean deliveries of singleton infants, the researchers hypothesized that maternal blood loss would be greater with delayed cord clamping (JAMA. 2019 Nov 19. doi: 10.1001/jama.2019.15995).

However, maternal blood loss, based on mean hemoglobin levels 1 day after delivery, was not significantly different between the delayed group (10.1 g/dL) and the immediate group (98 g/dL). The median time to cord clamping was 63 seconds in the delayed group and 6 seconds in the immediate group.

In addition, no significant differences occurred in 15 of 19 prespecified secondary outcomes. However, mean neonatal hemoglobin levels were significantly higher with delayed clamping, compared with levels associated with immediate clamping among 90 neonates for whom data were available (18.1 g/dL vs. 16.4 g/dL; P less than .001).

The results were limited by factors including lack of generalizability to other situations such as emergency or preterm deliveries and by the lack of a definition of a “clinically important postoperative hemoglobin change,” the researchers noted. However, the results show no significant impact of umbilical cord management on maternal hemoglobin in the study population.

In another study published in JAMA, Anup Katheria, MD, of Sharp Mary Birch Hospital for Women & Newborns, San Diego, and colleagues found no significant difference in rates of a composite outcome of death or severe intraventricular hemorrhage among infants randomized to umbilical cord milking (12%) vs. delayed umbilical cord clamping (8%). However, immediate umbilical cord milking was significantly associated with a higher rate of intraventricular hemorrhage alone, compared with delayed clamping (8% vs. 3%), and this signal of risk prompted the researchers to terminate the study earlier than intended.

The researchers randomized 474 infants born at less than 32 weeks’ gestation to umbilical cord milking or delayed umbilical cord clamping (JAMA. 2019 Nov 19. doi: 10.1001/jama.2019.16004). The study was conducted at six sites in the United States and one site each in Ireland, Germany, and Canada between June 2017 and September 2018. “Because of the importance of long-term neurodevelopment, all surviving infants will be followed up to determine developmental outcomes at 22 to 26 months’ corrected gestational age,” they said.

The study was terminated early, which prevents definitive conclusions, the researchers noted, but a new study has been approved to compare umbilical cord milking with delayed umbilical cord clamping in infants of 30-32 weeks’ gestational age, they said.

“Although the safety of placental transfusion for the mother seems well established, it remains unclear which method of providing placental transfusion is best for the infant: delayed clamping and cutting the cord or milking the intact cord. The latter provides a transfusion more rapidly, which may facilitate initiation of resuscitation when needed,” Heike Rabe, MD, of the University of Sussex, Brighton, and Ola Andersson, PhD, of Lund (Sweden) University, wrote in an editorial accompanying the two studies (JAMA. 2019 Nov 19;322:1864-5. doi: 10.1001/jama.2019.16003).

The 8% incidence of severe intraventricular hemorrhage in the umbilical milking group in the study by Katheria and colleagues was higher than the 5.2% in a recent Cochrane review, but the 3% incidence of severe intraventricular hemorrhage in the delayed group was lower than the 4.5% in the Cochrane review, they said.

“Umbilical cord milking has been used in many hospitals without an increase in intraventricular hemorrhage being observed,” they noted.

“The study by Purisch et al. demonstrated the safety of delayed cord clamping for mothers delivering by cesarean at term,” the editorialists wrote. Studies are underway to identify the best techniques for cord clamping, they said.

“In the meantime, clinicians should follow the World Health Organization recommendation to delay cord clamping and cutting for 1 to 3 minutes for term infants and for at least 60 seconds for preterm infants to prevent iron deficiency and potentially enable more premature infants to survive,” they concluded.

Dr. Purisch received funding from the Maternal-Fetal Medicine Fellow Research Fund for the first study. Coauthor Cynthia Gyamfi-Bannerman, MD, reported receiving grants from the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the Society for Maternal-Fetal Medicine/AMAG Pharmaceuticals, and personal fees from Sera Prognostics outside the submitted work. The second study was supported by NICHD in a grant to Dr. Katheria, who had no financial conflicts to disclose. Coauthor Gary Cutter, PhD, had numerous ties to pharmaceutical companies. The editorialists had no financial conflicts to disclose.

SOURCES: Purisch SE et al. JAMA. 2019 Nov 19. doi: 10.1001/jama.2019.15995; Katheria A et al. JAMA. 2019 Nov 19. doi: 10.1001/jama.2019.16004; Rabe H and Andersson O. JAMA. 2019 Nov 19; 322:1864-5.

Immediate umbilical cord milking or delayed clamping of the umbilical cord had no significant impact on maternal outcomes, but infants were significantly more likely to experience severe intraventricular hemorrhage with umbilical cord milking, according to results of two studies published in JAMA.

arztsamui/Thinkstock

“While the evidence for neonatal benefit with delayed cord clamping at term is strong, data related to maternal outcomes, particularly after cesarean delivery, are largely lacking,” wrote Stephanie E. Purisch, MD, of Columbia University Irving Medical Center, New York, and colleagues.

In a randomized trial of 113 women who underwent cesarean deliveries of singleton infants, the researchers hypothesized that maternal blood loss would be greater with delayed cord clamping (JAMA. 2019 Nov 19. doi: 10.1001/jama.2019.15995).

However, maternal blood loss, based on mean hemoglobin levels 1 day after delivery, was not significantly different between the delayed group (10.1 g/dL) and the immediate group (98 g/dL). The median time to cord clamping was 63 seconds in the delayed group and 6 seconds in the immediate group.

In addition, no significant differences occurred in 15 of 19 prespecified secondary outcomes. However, mean neonatal hemoglobin levels were significantly higher with delayed clamping, compared with levels associated with immediate clamping among 90 neonates for whom data were available (18.1 g/dL vs. 16.4 g/dL; P less than .001).

The results were limited by factors including lack of generalizability to other situations such as emergency or preterm deliveries and by the lack of a definition of a “clinically important postoperative hemoglobin change,” the researchers noted. However, the results show no significant impact of umbilical cord management on maternal hemoglobin in the study population.

In another study published in JAMA, Anup Katheria, MD, of Sharp Mary Birch Hospital for Women & Newborns, San Diego, and colleagues found no significant difference in rates of a composite outcome of death or severe intraventricular hemorrhage among infants randomized to umbilical cord milking (12%) vs. delayed umbilical cord clamping (8%). However, immediate umbilical cord milking was significantly associated with a higher rate of intraventricular hemorrhage alone, compared with delayed clamping (8% vs. 3%), and this signal of risk prompted the researchers to terminate the study earlier than intended.

The researchers randomized 474 infants born at less than 32 weeks’ gestation to umbilical cord milking or delayed umbilical cord clamping (JAMA. 2019 Nov 19. doi: 10.1001/jama.2019.16004). The study was conducted at six sites in the United States and one site each in Ireland, Germany, and Canada between June 2017 and September 2018. “Because of the importance of long-term neurodevelopment, all surviving infants will be followed up to determine developmental outcomes at 22 to 26 months’ corrected gestational age,” they said.

The study was terminated early, which prevents definitive conclusions, the researchers noted, but a new study has been approved to compare umbilical cord milking with delayed umbilical cord clamping in infants of 30-32 weeks’ gestational age, they said.

“Although the safety of placental transfusion for the mother seems well established, it remains unclear which method of providing placental transfusion is best for the infant: delayed clamping and cutting the cord or milking the intact cord. The latter provides a transfusion more rapidly, which may facilitate initiation of resuscitation when needed,” Heike Rabe, MD, of the University of Sussex, Brighton, and Ola Andersson, PhD, of Lund (Sweden) University, wrote in an editorial accompanying the two studies (JAMA. 2019 Nov 19;322:1864-5. doi: 10.1001/jama.2019.16003).

The 8% incidence of severe intraventricular hemorrhage in the umbilical milking group in the study by Katheria and colleagues was higher than the 5.2% in a recent Cochrane review, but the 3% incidence of severe intraventricular hemorrhage in the delayed group was lower than the 4.5% in the Cochrane review, they said.

“Umbilical cord milking has been used in many hospitals without an increase in intraventricular hemorrhage being observed,” they noted.

“The study by Purisch et al. demonstrated the safety of delayed cord clamping for mothers delivering by cesarean at term,” the editorialists wrote. Studies are underway to identify the best techniques for cord clamping, they said.

“In the meantime, clinicians should follow the World Health Organization recommendation to delay cord clamping and cutting for 1 to 3 minutes for term infants and for at least 60 seconds for preterm infants to prevent iron deficiency and potentially enable more premature infants to survive,” they concluded.

Dr. Purisch received funding from the Maternal-Fetal Medicine Fellow Research Fund for the first study. Coauthor Cynthia Gyamfi-Bannerman, MD, reported receiving grants from the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the Society for Maternal-Fetal Medicine/AMAG Pharmaceuticals, and personal fees from Sera Prognostics outside the submitted work. The second study was supported by NICHD in a grant to Dr. Katheria, who had no financial conflicts to disclose. Coauthor Gary Cutter, PhD, had numerous ties to pharmaceutical companies. The editorialists had no financial conflicts to disclose.

SOURCES: Purisch SE et al. JAMA. 2019 Nov 19. doi: 10.1001/jama.2019.15995; Katheria A et al. JAMA. 2019 Nov 19. doi: 10.1001/jama.2019.16004; Rabe H and Andersson O. JAMA. 2019 Nov 19; 322:1864-5.

Educating pediatricians to inform their teenage patients about emergency contraception is an important step toward reducing adolescent pregnancy in the United States, according to a policy statement issued by the American Academy of Pediatrics.

“Improved use of contraception, not declines in sexual activity, has been the most significant contributor to the decline in pregnancy risk among U.S. teenagers over the past decade,” wrote Krishna K. Upadhya, MD, MPH, and colleagues on the AAP’s Committee on Adolescence.

Data suggest that adolescents are more likely to use emergency contraception when it has been prescribed or given before they need it; however, many pediatricians do not routinely counsel adolescents about emergency contraception, they noted.

In the statement published Nov. 18 in Pediatrics, the committee listed indications for emergency contraception as unprotected or underprotected intercourse for reasons including sexual assault, lack of contraception use, or ineffective contraception use. The committee recommended that pediatricians provide emergency contraception in the form of oral pills (levonorgestrel or ulipristal acetate) or copper IUDs to adolescents in immediate need of emergency contraception, and ideally, to make those products available in advance so teens have them on hand.

The committee recommended the use of combined contraceptive pills known as the Yuzpe method, if dedicated emergency contraceptive pills or IUDs are not available, and emphasized the possible impact of overweight and obesity on the effectiveness of emergency contraceptive pills.

The recommendations also include advising adolescents about proper use of emergency contraception, and the need for follow-up visits to address ongoing contraception and testing for sexually transmitted diseases. The committee noted that adolescents using emergency contraceptive pills must be counseled to abstain or use additional contraception (such as condoms) because of the delay in ovulation associated with these products.

The committee recommended that all adolescents receive counseling on emergency contraception as part of a general discussion on sexual health, regardless of current sexual activity or lack of it. “In addition, it is important that information about EC be included in all contraceptive and STI counseling for adolescents wherever these visits occur, including emergency departments, clinics, and hospitals,” and that pediatricians provide this information to teens with physical and cognitive disabilities and their parents as well, they wrote.

The committee concluded the recommendations by asking clinicians to advocate for free or inexpensive nonprescription access to emergency contraceptive pills for adolescents regardless of age and insurance status.

M. Susan Jay, MD, program director of adolescent health and medicine at the Children’s Hospital of Wisconsin, Milwaukee, commented in an interview, “Forty years ago, as I completed my training, I don’t believe it would have been possible to contemplate the growth of adolescent health care, including reproductive health care that current pediatric practitioners are asked to provide to the adolescents under their care.”

“Today we are asked to be a resource from topics related to vaping and trafficking as well as psychosocial concerns from anxiety to eating disorders. This policy statement from the AAP addresses how best to approach and counsel both young women and young men as they traverse the issues of sexual engagement and responsibility. I have been privileged to work with pediatric residents who are far more sophisticated and knowledgeable than I have ever been, but they call and ask the very questions so adroitly presented in this policy statement. Most of my pediatric colleagues have had a limited adolescent medicine experience, and yet they are asked to care for youth in sensitive situations and want the tools necessary to provide the very best and safest care to their patients. Most of us will not be skilled in the placement of copper IUDs as outlined as an option for emergency contraception, but knowledge of the medications reviewed is of importance and relevant to everyday practice.

"This policy statement is a resource and educational update rolled into one, and Dr. Upadhya and her colleagues on the AAP’s Committee on Adolescence should be commended for assisting providers to offer the best and safest care,” said Dr. Jay, who was not involved in writing the AAP policy statement, and is a member of the Pediatric News Editorial Advisory Board who was asked to comment on the new policy statement.

 The American College of Pediatricians (ACPeds), a conservative-leaning pediatric organization opposes the AAP’s recent opinion and the provision of emergency contraception to youth, Michelle Cretella, MD, executive director for the group, said in an interview. In its own position statement, ACPeds wrote that preprescribing EC to adolescent patients, or making them available without prescription, “carries significant medical risk and is counterproductive to the parent-adolescent and patient-physician relationships.”  

“Increased access to [EC] does not result in lower pregnancy rates among adolescents and young adults,” said Dr. Cretella, a board-certified pediatrician who is not currently in practice. The ACPeds position statement cites a 2012 study that examined a Washington state program that allowed patients to access EC through pharmacies without a prescription. The analysis found the increased access to EC resulted in a statistically significant rise in gonorrhea for women and overall for both genders. The increased access to EC did not impact birth rates or abortion rates, according to the study (Economic Inquiry. 2013 Jul;51[3]:1682-95).

The ACPeds statement also notes a report by the Heritage Foundation that found sexually active teenagers were less likely to be happy and more likely to be depressed than were youth who were not having sex. The 2003 report, which examined responses from 6,500 adolescents through the 1996 National Longitudinal Survey of Adolescent Health, also found that sexually active teenagers were significantly more likely to attempt suicide, compared with teens who were not sexually active. 


Dr. Upadhya disclosed having no financial conflicts.

SOURCE: Upadhya KK et al. Pediatrics. 2019 Nov 18. doi: 10.1542/peds.2019-3149.

This article was updated on 11/19/19 and 12/16/19.

Educating pediatricians to inform their teenage patients about emergency contraception is an important step toward reducing adolescent pregnancy in the United States, according to a policy statement issued by the American Academy of Pediatrics.

“Improved use of contraception, not declines in sexual activity, has been the most significant contributor to the decline in pregnancy risk among U.S. teenagers over the past decade,” wrote Krishna K. Upadhya, MD, MPH, and colleagues on the AAP’s Committee on Adolescence.

Data suggest that adolescents are more likely to use emergency contraception when it has been prescribed or given before they need it; however, many pediatricians do not routinely counsel adolescents about emergency contraception, they noted.

In the statement published Nov. 18 in Pediatrics, the committee listed indications for emergency contraception as unprotected or underprotected intercourse for reasons including sexual assault, lack of contraception use, or ineffective contraception use. The committee recommended that pediatricians provide emergency contraception in the form of oral pills (levonorgestrel or ulipristal acetate) or copper IUDs to adolescents in immediate need of emergency contraception, and ideally, to make those products available in advance so teens have them on hand.

The committee recommended the use of combined contraceptive pills known as the Yuzpe method, if dedicated emergency contraceptive pills or IUDs are not available, and emphasized the possible impact of overweight and obesity on the effectiveness of emergency contraceptive pills.

The recommendations also include advising adolescents about proper use of emergency contraception, and the need for follow-up visits to address ongoing contraception and testing for sexually transmitted diseases. The committee noted that adolescents using emergency contraceptive pills must be counseled to abstain or use additional contraception (such as condoms) because of the delay in ovulation associated with these products.

The committee recommended that all adolescents receive counseling on emergency contraception as part of a general discussion on sexual health, regardless of current sexual activity or lack of it. “In addition, it is important that information about EC be included in all contraceptive and STI counseling for adolescents wherever these visits occur, including emergency departments, clinics, and hospitals,” and that pediatricians provide this information to teens with physical and cognitive disabilities and their parents as well, they wrote.

The committee concluded the recommendations by asking clinicians to advocate for free or inexpensive nonprescription access to emergency contraceptive pills for adolescents regardless of age and insurance status.

M. Susan Jay, MD, program director of adolescent health and medicine at the Children’s Hospital of Wisconsin, Milwaukee, commented in an interview, “Forty years ago, as I completed my training, I don’t believe it would have been possible to contemplate the growth of adolescent health care, including reproductive health care that current pediatric practitioners are asked to provide to the adolescents under their care.”

“Today we are asked to be a resource from topics related to vaping and trafficking as well as psychosocial concerns from anxiety to eating disorders. This policy statement from the AAP addresses how best to approach and counsel both young women and young men as they traverse the issues of sexual engagement and responsibility. I have been privileged to work with pediatric residents who are far more sophisticated and knowledgeable than I have ever been, but they call and ask the very questions so adroitly presented in this policy statement. Most of my pediatric colleagues have had a limited adolescent medicine experience, and yet they are asked to care for youth in sensitive situations and want the tools necessary to provide the very best and safest care to their patients. Most of us will not be skilled in the placement of copper IUDs as outlined as an option for emergency contraception, but knowledge of the medications reviewed is of importance and relevant to everyday practice.

"This policy statement is a resource and educational update rolled into one, and Dr. Upadhya and her colleagues on the AAP’s Committee on Adolescence should be commended for assisting providers to offer the best and safest care,” said Dr. Jay, who was not involved in writing the AAP policy statement, and is a member of the Pediatric News Editorial Advisory Board who was asked to comment on the new policy statement.

 The American College of Pediatricians (ACPeds), a conservative-leaning pediatric organization opposes the AAP’s recent opinion and the provision of emergency contraception to youth, Michelle Cretella, MD, executive director for the group, said in an interview. In its own position statement, ACPeds wrote that preprescribing EC to adolescent patients, or making them available without prescription, “carries significant medical risk and is counterproductive to the parent-adolescent and patient-physician relationships.”  

“Increased access to [EC] does not result in lower pregnancy rates among adolescents and young adults,” said Dr. Cretella, a board-certified pediatrician who is not currently in practice. The ACPeds position statement cites a 2012 study that examined a Washington state program that allowed patients to access EC through pharmacies without a prescription. The analysis found the increased access to EC resulted in a statistically significant rise in gonorrhea for women and overall for both genders. The increased access to EC did not impact birth rates or abortion rates, according to the study (Economic Inquiry. 2013 Jul;51[3]:1682-95).

The ACPeds statement also notes a report by the Heritage Foundation that found sexually active teenagers were less likely to be happy and more likely to be depressed than were youth who were not having sex. The 2003 report, which examined responses from 6,500 adolescents through the 1996 National Longitudinal Survey of Adolescent Health, also found that sexually active teenagers were significantly more likely to attempt suicide, compared with teens who were not sexually active. 


Dr. Upadhya disclosed having no financial conflicts.

SOURCE: Upadhya KK et al. Pediatrics. 2019 Nov 18. doi: 10.1542/peds.2019-3149.

This article was updated on 11/19/19 and 12/16/19.

Educating pediatricians to inform their teenage patients about emergency contraception is an important step toward reducing adolescent pregnancy in the United States, according to a policy statement issued by the American Academy of Pediatrics.

“Improved use of contraception, not declines in sexual activity, has been the most significant contributor to the decline in pregnancy risk among U.S. teenagers over the past decade,” wrote Krishna K. Upadhya, MD, MPH, and colleagues on the AAP’s Committee on Adolescence.

Data suggest that adolescents are more likely to use emergency contraception when it has been prescribed or given before they need it; however, many pediatricians do not routinely counsel adolescents about emergency contraception, they noted.

In the statement published Nov. 18 in Pediatrics, the committee listed indications for emergency contraception as unprotected or underprotected intercourse for reasons including sexual assault, lack of contraception use, or ineffective contraception use. The committee recommended that pediatricians provide emergency contraception in the form of oral pills (levonorgestrel or ulipristal acetate) or copper IUDs to adolescents in immediate need of emergency contraception, and ideally, to make those products available in advance so teens have them on hand.

The committee recommended the use of combined contraceptive pills known as the Yuzpe method, if dedicated emergency contraceptive pills or IUDs are not available, and emphasized the possible impact of overweight and obesity on the effectiveness of emergency contraceptive pills.

The recommendations also include advising adolescents about proper use of emergency contraception, and the need for follow-up visits to address ongoing contraception and testing for sexually transmitted diseases. The committee noted that adolescents using emergency contraceptive pills must be counseled to abstain or use additional contraception (such as condoms) because of the delay in ovulation associated with these products.

The committee recommended that all adolescents receive counseling on emergency contraception as part of a general discussion on sexual health, regardless of current sexual activity or lack of it. “In addition, it is important that information about EC be included in all contraceptive and STI counseling for adolescents wherever these visits occur, including emergency departments, clinics, and hospitals,” and that pediatricians provide this information to teens with physical and cognitive disabilities and their parents as well, they wrote.

The committee concluded the recommendations by asking clinicians to advocate for free or inexpensive nonprescription access to emergency contraceptive pills for adolescents regardless of age and insurance status.

M. Susan Jay, MD, program director of adolescent health and medicine at the Children’s Hospital of Wisconsin, Milwaukee, commented in an interview, “Forty years ago, as I completed my training, I don’t believe it would have been possible to contemplate the growth of adolescent health care, including reproductive health care that current pediatric practitioners are asked to provide to the adolescents under their care.”

“Today we are asked to be a resource from topics related to vaping and trafficking as well as psychosocial concerns from anxiety to eating disorders. This policy statement from the AAP addresses how best to approach and counsel both young women and young men as they traverse the issues of sexual engagement and responsibility. I have been privileged to work with pediatric residents who are far more sophisticated and knowledgeable than I have ever been, but they call and ask the very questions so adroitly presented in this policy statement. Most of my pediatric colleagues have had a limited adolescent medicine experience, and yet they are asked to care for youth in sensitive situations and want the tools necessary to provide the very best and safest care to their patients. Most of us will not be skilled in the placement of copper IUDs as outlined as an option for emergency contraception, but knowledge of the medications reviewed is of importance and relevant to everyday practice.

"This policy statement is a resource and educational update rolled into one, and Dr. Upadhya and her colleagues on the AAP’s Committee on Adolescence should be commended for assisting providers to offer the best and safest care,” said Dr. Jay, who was not involved in writing the AAP policy statement, and is a member of the Pediatric News Editorial Advisory Board who was asked to comment on the new policy statement.

 The American College of Pediatricians (ACPeds), a conservative-leaning pediatric organization opposes the AAP’s recent opinion and the provision of emergency contraception to youth, Michelle Cretella, MD, executive director for the group, said in an interview. In its own position statement, ACPeds wrote that preprescribing EC to adolescent patients, or making them available without prescription, “carries significant medical risk and is counterproductive to the parent-adolescent and patient-physician relationships.”  

“Increased access to [EC] does not result in lower pregnancy rates among adolescents and young adults,” said Dr. Cretella, a board-certified pediatrician who is not currently in practice. The ACPeds position statement cites a 2012 study that examined a Washington state program that allowed patients to access EC through pharmacies without a prescription. The analysis found the increased access to EC resulted in a statistically significant rise in gonorrhea for women and overall for both genders. The increased access to EC did not impact birth rates or abortion rates, according to the study (Economic Inquiry. 2013 Jul;51[3]:1682-95).

The ACPeds statement also notes a report by the Heritage Foundation that found sexually active teenagers were less likely to be happy and more likely to be depressed than were youth who were not having sex. The 2003 report, which examined responses from 6,500 adolescents through the 1996 National Longitudinal Survey of Adolescent Health, also found that sexually active teenagers were significantly more likely to attempt suicide, compared with teens who were not sexually active. 


Dr. Upadhya disclosed having no financial conflicts.

SOURCE: Upadhya KK et al. Pediatrics. 2019 Nov 18. doi: 10.1542/peds.2019-3149.

This article was updated on 11/19/19 and 12/16/19.

Early ustekinumab levels are significantly associated with a 75% reduction in Psoriasis Area and Severity Index scores from baseline, according to data from 491 adults with psoriasis.

“Evidence suggests that ustekinumab dosing is suboptimal in some patients,” because of factors including weight-based dosing and dosing intervals; therefore “individualized dose optimization and therapeutic drug monitoring (TDM) of ustekinumab may have clinical utility,” Teresa Tsakok, MRCP, of King’s College London, and colleagues wrote in JAMA Dermatology.

The researchers identified 491 adults with psoriasis who were part of the BSTOP (Biomarkers of Systemic Treatment Outcomes in Psoriasis) cohort study in the United Kingdom. Blood samples were collected during clinical reviews to assess ustekinumab levels, and primary treatment response was 75% reduction in Psoriasis Area and Severity Index (PASI 75) scores.

Ustekinumab levels measured from 1-12 weeks after the start of treatment were significantly associated with PASI 75 after 6 months (odds ratio, 1.38) after controlling for factors including baseline PASI scores, age, and ustekinumab dose. The association, however, did not hold for other PASI outcomes, including PASI 90 and PASI scores of 1.5 or less.

The participants had at least one serum sample collected at 0-56 weeks from the start of treatment and at least one PSAI score measured within the first year of treatment. The average baseline PASI score was 13.3, the average body mass index was 32 kg/m², and 65% of the patients were male.

Overall, 348 patients (71%) achieved PASI 75 within a year of starting ustekinumab. Antidrug antibodies were detected in 17 patients (3.5% of the study population), compared with a rate of 37.5% in patients from the same study cohort who were taking adalimumab, the researchers noted.

The study findings were limited by several factors, including a dropoff in patient numbers over the study period and the difficulty in accounting for the association between drug level and treatment response in a logistic regression model, the researchers said.

The results, however, suggest “that adequate drug exposure early in the treatment cycle may be particularly important in determining clinical outcome with ustekinumab,” and that “future work should focus on pharmacokinetic-pharmacodynamic modeling of the whole time course of response to ustekinumab” as a key step toward personalized treatment regimens, they concluded.

The study was supported by several entities, including the Medical Research Council (MRC), the National Institute for Health Research Biomedical Research Center and the Psoriasis Association. Dr. Tsakok had no financial conflicts to disclose and was supported by an MRC Clinical Research Training Fellowship.

SOURCE: Tsakok T et al. JAMA Dermatol. 2019 Sep 18. doi: 10.1001/jamadermatol.2019.1783.

Early ustekinumab levels are significantly associated with a 75% reduction in Psoriasis Area and Severity Index scores from baseline, according to data from 491 adults with psoriasis.

“Evidence suggests that ustekinumab dosing is suboptimal in some patients,” because of factors including weight-based dosing and dosing intervals; therefore “individualized dose optimization and therapeutic drug monitoring (TDM) of ustekinumab may have clinical utility,” Teresa Tsakok, MRCP, of King’s College London, and colleagues wrote in JAMA Dermatology.

The researchers identified 491 adults with psoriasis who were part of the BSTOP (Biomarkers of Systemic Treatment Outcomes in Psoriasis) cohort study in the United Kingdom. Blood samples were collected during clinical reviews to assess ustekinumab levels, and primary treatment response was 75% reduction in Psoriasis Area and Severity Index (PASI 75) scores.

Ustekinumab levels measured from 1-12 weeks after the start of treatment were significantly associated with PASI 75 after 6 months (odds ratio, 1.38) after controlling for factors including baseline PASI scores, age, and ustekinumab dose. The association, however, did not hold for other PASI outcomes, including PASI 90 and PASI scores of 1.5 or less.

The participants had at least one serum sample collected at 0-56 weeks from the start of treatment and at least one PSAI score measured within the first year of treatment. The average baseline PASI score was 13.3, the average body mass index was 32 kg/m², and 65% of the patients were male.

Overall, 348 patients (71%) achieved PASI 75 within a year of starting ustekinumab. Antidrug antibodies were detected in 17 patients (3.5% of the study population), compared with a rate of 37.5% in patients from the same study cohort who were taking adalimumab, the researchers noted.

The study findings were limited by several factors, including a dropoff in patient numbers over the study period and the difficulty in accounting for the association between drug level and treatment response in a logistic regression model, the researchers said.

The results, however, suggest “that adequate drug exposure early in the treatment cycle may be particularly important in determining clinical outcome with ustekinumab,” and that “future work should focus on pharmacokinetic-pharmacodynamic modeling of the whole time course of response to ustekinumab” as a key step toward personalized treatment regimens, they concluded.

The study was supported by several entities, including the Medical Research Council (MRC), the National Institute for Health Research Biomedical Research Center and the Psoriasis Association. Dr. Tsakok had no financial conflicts to disclose and was supported by an MRC Clinical Research Training Fellowship.

SOURCE: Tsakok T et al. JAMA Dermatol. 2019 Sep 18. doi: 10.1001/jamadermatol.2019.1783.

Early ustekinumab levels are significantly associated with a 75% reduction in Psoriasis Area and Severity Index scores from baseline, according to data from 491 adults with psoriasis.

“Evidence suggests that ustekinumab dosing is suboptimal in some patients,” because of factors including weight-based dosing and dosing intervals; therefore “individualized dose optimization and therapeutic drug monitoring (TDM) of ustekinumab may have clinical utility,” Teresa Tsakok, MRCP, of King’s College London, and colleagues wrote in JAMA Dermatology.

The researchers identified 491 adults with psoriasis who were part of the BSTOP (Biomarkers of Systemic Treatment Outcomes in Psoriasis) cohort study in the United Kingdom. Blood samples were collected during clinical reviews to assess ustekinumab levels, and primary treatment response was 75% reduction in Psoriasis Area and Severity Index (PASI 75) scores.

Ustekinumab levels measured from 1-12 weeks after the start of treatment were significantly associated with PASI 75 after 6 months (odds ratio, 1.38) after controlling for factors including baseline PASI scores, age, and ustekinumab dose. The association, however, did not hold for other PASI outcomes, including PASI 90 and PASI scores of 1.5 or less.

The participants had at least one serum sample collected at 0-56 weeks from the start of treatment and at least one PSAI score measured within the first year of treatment. The average baseline PASI score was 13.3, the average body mass index was 32 kg/m², and 65% of the patients were male.

Overall, 348 patients (71%) achieved PASI 75 within a year of starting ustekinumab. Antidrug antibodies were detected in 17 patients (3.5% of the study population), compared with a rate of 37.5% in patients from the same study cohort who were taking adalimumab, the researchers noted.

The study findings were limited by several factors, including a dropoff in patient numbers over the study period and the difficulty in accounting for the association between drug level and treatment response in a logistic regression model, the researchers said.

The results, however, suggest “that adequate drug exposure early in the treatment cycle may be particularly important in determining clinical outcome with ustekinumab,” and that “future work should focus on pharmacokinetic-pharmacodynamic modeling of the whole time course of response to ustekinumab” as a key step toward personalized treatment regimens, they concluded.

The study was supported by several entities, including the Medical Research Council (MRC), the National Institute for Health Research Biomedical Research Center and the Psoriasis Association. Dr. Tsakok had no financial conflicts to disclose and was supported by an MRC Clinical Research Training Fellowship.

SOURCE: Tsakok T et al. JAMA Dermatol. 2019 Sep 18. doi: 10.1001/jamadermatol.2019.1783.

Air pollution in the United States increased by 5.5% from 2016 to 2018, after a decline of 24% from 2009 to 2016, according to a working paper issued by the National Bureau of Economic Research.

Thomas321/iStock/Getty Images Plus

The increase in air pollution, defined as the amount of fine particulate matter (PM_2.5) in the air, was associated with an additional 9,700 premature deaths from 2016 to 2018, representing damages totaling $89 billion, wrote Karen Clay and Nicholas C. Miller of Carnegie Mellon University, Pittsburgh. The increase may reflect in part the impact of the a major wildfire that occurred in the fall of 2018.

“These increases are worrisome, because previous studies have shown that PM_2.5 increases premature mortality risk,” the researchers wrote. To assess the changes in air quality, they reviewed data from the Air Quality System (AQS) database including total PM_2.5 and three PM_2.5 species: ammonium nitrate, sulfate, and elemental carbon.

To examine the impact of pollution on public health, the researchers used data from the damage function approach used in the Environmental Protection Agency’s Benefit-Cost Analysis of the Clean Air Act, the Regulatory Impact Analysis for PM_2.5, and multiple academic studies.

The number of premature deaths linked to PM_2.5 increased by approximately 4,900 between 2016 and 2017 and by 9,700 from 2016 to 2018 in U.S. counties with monitors.

Elderly individuals are especially vulnerable to particulate matter exposure and experience approximately 80% of the burden of disease related to pollution, the researchers said.

“While some deaths among the elderly are shifted by days or weeks, recent research suggests that the burden is ‘concentrated among the elderly with 5-10 years of remaining life expectancy, followed by those with 2-5 years remaining, because these groups represent a large fraction of the Medicare population and are also vulnerable to acute particulate matter exposure,’” they said.

Overall, pollution levels across the United States stopped declining in 2016. When broken down by four Census regions, no change in PM_2.5 levels occurred in the Northeast and South between 2016 and 2018; the Midwest and West showed increases in PM_2.5 of 9.3% and 11.5%, respectively.

The researchers suggested three possible factors affecting the increase in pollution: economic activity, wildfires, and air quality enforcement. They noted that increases in PM_2.5 were especially high in California, and that California accounted for 43% of the increase in pollution-related premature deaths nationwide between 2016 and 2018. When the researchers examined PM_2.5 month by month, “November 2018 had an outsized effect on our mortality calculations,” largely because the devastating Camp Fire occurred in California at that time, they said.

With regard to the impact of economic activity on pollution, the researchers reviewed data from the National Highway Administration and Energy Information Administration that showed increased use of natural gas and increased vehicle travel as contributing to higher levels of nitrate and elemental carbon in the air.

Finally, the researchers reported that enforcement of the Clean Air Act appeared to have declined since 2013, and this decline, although it might reflect increased compliance in some areas “is concerning in light of the increases in air pollution in both attainment and nonattainment counties after 2016,” they said.

The researchers had no financial conflicts to disclose.

SOURCE: Clay K, Miller NZ. NBER 2019. Working Paper 26381. doi: 10.3386/w26381.

Air pollution in the United States increased by 5.5% from 2016 to 2018, after a decline of 24% from 2009 to 2016, according to a working paper issued by the National Bureau of Economic Research.

Thomas321/iStock/Getty Images Plus

The increase in air pollution, defined as the amount of fine particulate matter (PM_2.5) in the air, was associated with an additional 9,700 premature deaths from 2016 to 2018, representing damages totaling $89 billion, wrote Karen Clay and Nicholas C. Miller of Carnegie Mellon University, Pittsburgh. The increase may reflect in part the impact of the a major wildfire that occurred in the fall of 2018.

“These increases are worrisome, because previous studies have shown that PM_2.5 increases premature mortality risk,” the researchers wrote. To assess the changes in air quality, they reviewed data from the Air Quality System (AQS) database including total PM_2.5 and three PM_2.5 species: ammonium nitrate, sulfate, and elemental carbon.

To examine the impact of pollution on public health, the researchers used data from the damage function approach used in the Environmental Protection Agency’s Benefit-Cost Analysis of the Clean Air Act, the Regulatory Impact Analysis for PM_2.5, and multiple academic studies.

The number of premature deaths linked to PM_2.5 increased by approximately 4,900 between 2016 and 2017 and by 9,700 from 2016 to 2018 in U.S. counties with monitors.

Elderly individuals are especially vulnerable to particulate matter exposure and experience approximately 80% of the burden of disease related to pollution, the researchers said.

“While some deaths among the elderly are shifted by days or weeks, recent research suggests that the burden is ‘concentrated among the elderly with 5-10 years of remaining life expectancy, followed by those with 2-5 years remaining, because these groups represent a large fraction of the Medicare population and are also vulnerable to acute particulate matter exposure,’” they said.

Overall, pollution levels across the United States stopped declining in 2016. When broken down by four Census regions, no change in PM_2.5 levels occurred in the Northeast and South between 2016 and 2018; the Midwest and West showed increases in PM_2.5 of 9.3% and 11.5%, respectively.

The researchers suggested three possible factors affecting the increase in pollution: economic activity, wildfires, and air quality enforcement. They noted that increases in PM_2.5 were especially high in California, and that California accounted for 43% of the increase in pollution-related premature deaths nationwide between 2016 and 2018. When the researchers examined PM_2.5 month by month, “November 2018 had an outsized effect on our mortality calculations,” largely because the devastating Camp Fire occurred in California at that time, they said.

With regard to the impact of economic activity on pollution, the researchers reviewed data from the National Highway Administration and Energy Information Administration that showed increased use of natural gas and increased vehicle travel as contributing to higher levels of nitrate and elemental carbon in the air.

Finally, the researchers reported that enforcement of the Clean Air Act appeared to have declined since 2013, and this decline, although it might reflect increased compliance in some areas “is concerning in light of the increases in air pollution in both attainment and nonattainment counties after 2016,” they said.

The researchers had no financial conflicts to disclose.

SOURCE: Clay K, Miller NZ. NBER 2019. Working Paper 26381. doi: 10.3386/w26381.

Air pollution in the United States increased by 5.5% from 2016 to 2018, after a decline of 24% from 2009 to 2016, according to a working paper issued by the National Bureau of Economic Research.

Thomas321/iStock/Getty Images Plus

The increase in air pollution, defined as the amount of fine particulate matter (PM_2.5) in the air, was associated with an additional 9,700 premature deaths from 2016 to 2018, representing damages totaling $89 billion, wrote Karen Clay and Nicholas C. Miller of Carnegie Mellon University, Pittsburgh. The increase may reflect in part the impact of the a major wildfire that occurred in the fall of 2018.

“These increases are worrisome, because previous studies have shown that PM_2.5 increases premature mortality risk,” the researchers wrote. To assess the changes in air quality, they reviewed data from the Air Quality System (AQS) database including total PM_2.5 and three PM_2.5 species: ammonium nitrate, sulfate, and elemental carbon.

To examine the impact of pollution on public health, the researchers used data from the damage function approach used in the Environmental Protection Agency’s Benefit-Cost Analysis of the Clean Air Act, the Regulatory Impact Analysis for PM_2.5, and multiple academic studies.

The number of premature deaths linked to PM_2.5 increased by approximately 4,900 between 2016 and 2017 and by 9,700 from 2016 to 2018 in U.S. counties with monitors.

Elderly individuals are especially vulnerable to particulate matter exposure and experience approximately 80% of the burden of disease related to pollution, the researchers said.

“While some deaths among the elderly are shifted by days or weeks, recent research suggests that the burden is ‘concentrated among the elderly with 5-10 years of remaining life expectancy, followed by those with 2-5 years remaining, because these groups represent a large fraction of the Medicare population and are also vulnerable to acute particulate matter exposure,’” they said.

Overall, pollution levels across the United States stopped declining in 2016. When broken down by four Census regions, no change in PM_2.5 levels occurred in the Northeast and South between 2016 and 2018; the Midwest and West showed increases in PM_2.5 of 9.3% and 11.5%, respectively.

The researchers suggested three possible factors affecting the increase in pollution: economic activity, wildfires, and air quality enforcement. They noted that increases in PM_2.5 were especially high in California, and that California accounted for 43% of the increase in pollution-related premature deaths nationwide between 2016 and 2018. When the researchers examined PM_2.5 month by month, “November 2018 had an outsized effect on our mortality calculations,” largely because the devastating Camp Fire occurred in California at that time, they said.

With regard to the impact of economic activity on pollution, the researchers reviewed data from the National Highway Administration and Energy Information Administration that showed increased use of natural gas and increased vehicle travel as contributing to higher levels of nitrate and elemental carbon in the air.

Finally, the researchers reported that enforcement of the Clean Air Act appeared to have declined since 2013, and this decline, although it might reflect increased compliance in some areas “is concerning in light of the increases in air pollution in both attainment and nonattainment counties after 2016,” they said.

The researchers had no financial conflicts to disclose.

SOURCE: Clay K, Miller NZ. NBER 2019. Working Paper 26381. doi: 10.3386/w26381.

Blood-brain barrier imaging can serve as a biomarker for progression of disease in adults with bipolar disorder, results from a small study suggest.

“While the pathophysiology of bipolar disorder remains poorly understood, converging evidence points to the presence of neuroinflammation in bipolar patients,” wrote Lyna Kamintsky, a PhD candidate at Dalhousie University, Halifax, N.S., and colleagues.

The researchers examined MRI data from 36 patients with bipolar disorder and compared them with 14 matched controls. The average age of the patients was 49 years and the average duration of illness was 28 years. The study was published in NeuroImage: Clinical (2019 Oct 22. doi: 10.1016/j.nicl.2019.102049).

“Leakage rates were considered pathological when exceeding 0.02, the 95th percentile of all values in a cohort of control subjects,” the researchers said. Overall, 10 subjects (all patients with bipolar disorder) met criteria for “extensive blood-brain barrier leakage.” The researchers found that those patients also had higher rates of chronic illness, more frequent and/or severe manic episodes, and more severe anxiety, depression, and social/occupational dysfunction, compared with those without blood-brain barrier leakage.

The patients with extensive blood-brain barrier leakage also had higher body mass indexes, greater risk of cardiovascular disease, and advanced heart age. In addition, all patients in this group had comorbid insulin resistance.

The study findings were limited by the small sample size, but the results suggest that blood-brain barrier imaging could be a biomarker for bipolar disease progression with implications for treatment, the researchers said.

The study was supported by the European Union’s Seventh Framework Program, the Nova Scotia Health Research Foundation, Brain Canada, and the Brain & Behavior Research Foundation. The researchers disclosed having no financial conflicts.

SOURCE: Kamintsky L et al. NeuroImage: Clinical. 2019 Oct 22. doi: 10.1016/j.nicl.2019.102049.

Blood-brain barrier imaging can serve as a biomarker for progression of disease in adults with bipolar disorder, results from a small study suggest.

“While the pathophysiology of bipolar disorder remains poorly understood, converging evidence points to the presence of neuroinflammation in bipolar patients,” wrote Lyna Kamintsky, a PhD candidate at Dalhousie University, Halifax, N.S., and colleagues.

The researchers examined MRI data from 36 patients with bipolar disorder and compared them with 14 matched controls. The average age of the patients was 49 years and the average duration of illness was 28 years. The study was published in NeuroImage: Clinical (2019 Oct 22. doi: 10.1016/j.nicl.2019.102049).

“Leakage rates were considered pathological when exceeding 0.02, the 95th percentile of all values in a cohort of control subjects,” the researchers said. Overall, 10 subjects (all patients with bipolar disorder) met criteria for “extensive blood-brain barrier leakage.” The researchers found that those patients also had higher rates of chronic illness, more frequent and/or severe manic episodes, and more severe anxiety, depression, and social/occupational dysfunction, compared with those without blood-brain barrier leakage.

The patients with extensive blood-brain barrier leakage also had higher body mass indexes, greater risk of cardiovascular disease, and advanced heart age. In addition, all patients in this group had comorbid insulin resistance.

The study findings were limited by the small sample size, but the results suggest that blood-brain barrier imaging could be a biomarker for bipolar disease progression with implications for treatment, the researchers said.

The study was supported by the European Union’s Seventh Framework Program, the Nova Scotia Health Research Foundation, Brain Canada, and the Brain & Behavior Research Foundation. The researchers disclosed having no financial conflicts.

SOURCE: Kamintsky L et al. NeuroImage: Clinical. 2019 Oct 22. doi: 10.1016/j.nicl.2019.102049.

Blood-brain barrier imaging can serve as a biomarker for progression of disease in adults with bipolar disorder, results from a small study suggest.

“While the pathophysiology of bipolar disorder remains poorly understood, converging evidence points to the presence of neuroinflammation in bipolar patients,” wrote Lyna Kamintsky, a PhD candidate at Dalhousie University, Halifax, N.S., and colleagues.

The researchers examined MRI data from 36 patients with bipolar disorder and compared them with 14 matched controls. The average age of the patients was 49 years and the average duration of illness was 28 years. The study was published in NeuroImage: Clinical (2019 Oct 22. doi: 10.1016/j.nicl.2019.102049).

“Leakage rates were considered pathological when exceeding 0.02, the 95th percentile of all values in a cohort of control subjects,” the researchers said. Overall, 10 subjects (all patients with bipolar disorder) met criteria for “extensive blood-brain barrier leakage.” The researchers found that those patients also had higher rates of chronic illness, more frequent and/or severe manic episodes, and more severe anxiety, depression, and social/occupational dysfunction, compared with those without blood-brain barrier leakage.

The patients with extensive blood-brain barrier leakage also had higher body mass indexes, greater risk of cardiovascular disease, and advanced heart age. In addition, all patients in this group had comorbid insulin resistance.

The study findings were limited by the small sample size, but the results suggest that blood-brain barrier imaging could be a biomarker for bipolar disease progression with implications for treatment, the researchers said.

The study was supported by the European Union’s Seventh Framework Program, the Nova Scotia Health Research Foundation, Brain Canada, and the Brain & Behavior Research Foundation. The researchers disclosed having no financial conflicts.

SOURCE: Kamintsky L et al. NeuroImage: Clinical. 2019 Oct 22. doi: 10.1016/j.nicl.2019.102049.

Psoriasis management in children involves attention not only to treatment of the physical condition but also psychosocial wellness and quality of life, according to a new clinical guideline on the management of pediatric psoriasis from the American Academy of Dermatology and the National Psoriasis Foundation.

Psoriasis affects approximately 1% of children, either alone or associated with comorbid conditions such as psoriatic arthritis (PsA), wrote Alan Menter, MD, of Baylor University Medical Center, Dallas, and coauthors of the guideline.

In the guideline, published in the Journal of the American Academy of Dermatology, the multidisciplinary work group identified screening tools to measure disease severity, strategies for management of comorbidities, and the safety and effectiveness of topical, systemic, and phototherapy treatments.

To assess disease severity, the work group recommended not only the use of body surface area (BSA), similar to measurement of severity in adults, but also the use of the Children’s Dermatology Life Quality Index, a 10-question quality of life survey, as BSA alone does not account for the potential negative impact of the disease on quality of life in terms of physical, emotional, social, and psychological function.

“For example, a child with psoriasis limited to the face or the entire scalp does not have severe disease based on BSA definitions, but if this involvement causes shame, social withdrawal, or bullying, it satisfies criteria for severe disease based on impact beyond the skin,” they said.

The work group stated that a variety of conditions may trigger or exacerbate psoriasis in children, including infections, cutaneous trauma, or physiological, emotional, and environmental stressors.

The majority of children with PsA develop joint inflammation before skin disease, the work group wrote. In addition, children with psoriasis are at increased risk for rheumatoid arthritis, so clinicians may need to distinguish between a combination of psoriasis and musculoskeletal issues and cases of either psoriatic or rheumatoid arthritis in young patients.

The cardiovascular risk factors associated with metabolic syndrome are greater in children with psoriasis, compared with children without psoriasis, the work group noted. In addition, pediatric psoriasis patients have a higher prevalence of obesity than children without psoriasis, and they recommended that children with psoriasis be monitored for the development of obesity, and that obese children with psoriasis should be referred for weight management.

The work group noted that data are insufficient in children to support the link between psoriasis and cardiovascular disease that has been documented in adults with psoriasis. However, “patients with pediatric psoriasis should have American Academy of Pediatrics (AAP)–recommended age-related cardiovascular screening regardless of the presence of signs or symptoms,” they said.

The guideline also recommends screening for dyslipidemia and hypertension according to AAP guidelines and educating pediatric psoriasis patients about the risk of diabetes and regularly screening for diabetes and insulin resistance in those who are obese. Overweight children with psoriasis may be screened at the provider’s discretion, they wrote. Patients with signs of inflammatory bowel disease, which also is associated with psoriasis in adults, should be considered for referral to a gastroenterologist, they noted.

Children with psoriasis should be screened regularly for mental health conditions regardless of age, and they should be asked about substance abuse, according to the guideline, and those with concerns should be referred for additional assessment and management.

The guideline divides treatment of psoriasis in children into three categories: topical, phototherapy and photochemotherapy, and systemic treatments (nonbiologic or biologic).

For topicals, the guideline recommendations include corticosteroids as an off-label therapy, as well as ultra-high-potency topical corticosteroids as monotherapy. Overall, “selection of a therapeutic routine (potency, delivery vehicle, frequency of application) should take into account sites of involvement, type and thickness of psoriasis, age of the patient, total BSA of application, anticipated occlusion, and disease acuity, among other patient-, disease-, and drug-related factors,” the authors wrote. Other topical options included in the recommendations: calcineurin inhibitors, topical vitamin D analogues, tazarotene (off label), anthralin, and coal tar.

Phototherapy has a history of use in psoriasis treatment and remains part of the current recommendations, although data in children are limited, and data on the use of phototherapy for pustular psoriasis in children are insufficient to make specific treatment and dosing recommendations, the work group noted. The researchers also noted that in-office phototherapy may not be feasible for many patients, but that in-home ultraviolet light equipment or natural sunlight in moderation could be recommended as an alternative.

The use of systemic, nonbiologic treatments for pediatric psoriasis should be “based on baseline severity of disease, subtype of psoriasis, speed of disease progression, lack of response to more conservative therapies such as topical agents and phototherapy (when appropriate), impaired physical or psychological functioning or [quality of life] due to disease extent, and the presence of comorbidities such as PsA,” the workgroup said.

Options for systemic treatment include methotrexate, cyclosporine (notably for pustular as well as plaque and erythrodermic psoriasis), and systemic retinoids. In addition, fumaric acid esters may be an option for children with moderate to severe psoriasis, with recommended clinical and laboratory monitoring.

The increasing safety and efficacy data on biologics in pediatric psoriasis patients support their consideration among first-line systemic treatments, the work group suggested. “Etanercept and ustekinumab are now [Food and Drug Administration] approved for patients with psoriasis 4 years and older and 12 years and older, respectively,” they said, and infliximab and adalimumab have been used off label in children.

The work group concluded that research and knowledge gaps about pediatric psoriasis persist and include mechanism of disease onset, development of comorbidities, and identification of ideal dosing for various treatments.

Finally, the work group emphasized the importance of collaboration between dermatologists and primary care providers for managing psoriasis in children, as well as the importance of patient education.

“Dermatologists should be mindful of the unique aspects of the emotional development of children and the social dynamics of having a visible difference,” they wrote. “Shared decision making with the patient (if age appropriate) and the caregivers is a useful approach, particularly as related to the use of off-label medications to treat severe disease,” they said.

“This is the first time that pediatric psoriasis has been discussed as an independent topic within the guideline,” said one of the guideline authors, Dawn M.R. Davis, MD, of the Mayo Clinic, Rochester, Minn., in an interview. “Children have unique physiology and psychosocial aspects to their care relative to adults. In addition, psoriasis has some clinical manifestations that are oftentimes distinctly seen in children,” she commented. “Creation of a guideline specific to children allows us to summarize the similarities and differences of disease presentation and management. It also allows an opportunity to clarify what research data (especially therapeutics) have been studied in children and their uses, safety profiles, and dosing,” she noted.

Psoriasis can be a psychosocially debilitating disease, she emphasized. “In children, for example, isolated or prominent facial involvement is common, which can be embarrassing and impact relationships.”

The take-home message for clinicians, Dr. Davis said, is to keep in mind the multisystemic nature of psoriasis. “It is not limited to the skin,” she said. “Treating a patient with psoriasis necessitates practicing whole-person care” and considering the multiple comorbidities that impact quality of life and overall health in children, as well as adults with psoriasis, she commented. “Dermatologists can empower patients and their caregivers by educating them on the multifocal, complex nature of the disease.” She added, “We have much to learn regarding psoriasis in the pediatric population. More research into therapeutics, topical and systemic, is necessary to optimize patient care.”

The guideline was based on studies published in the PubMed and MEDLINE databases from January 2011 through December 31, 2017.

Dr. Menter and Craig A. Elmets, MD, professor of dermatology, at the University of Alabama, Birmingham, were cochairs of the work group. The pediatric guideline is the latest in a multipart series of AAD-NPF guidelines on psoriasis being published this year in the Journal of the American Academy of Dermatology.

Many of the guideline authors, including lead author Dr. Menter, disclosed relationships with multiple companies; however, a minimum 51% of workgroup members had no relevant conflicts of interest in accordance with AAD policy. There was no funding source. Dr. Davis disclosed serving as an investigator for Regeneron, with no compensation.

SOURCE: Menter et al. J Am Acad Dermatol. 2019. doi: 10.1016/j.jaad.2019.08.049.

Psoriasis management in children involves attention not only to treatment of the physical condition but also psychosocial wellness and quality of life, according to a new clinical guideline on the management of pediatric psoriasis from the American Academy of Dermatology and the National Psoriasis Foundation.

Psoriasis affects approximately 1% of children, either alone or associated with comorbid conditions such as psoriatic arthritis (PsA), wrote Alan Menter, MD, of Baylor University Medical Center, Dallas, and coauthors of the guideline.

In the guideline, published in the Journal of the American Academy of Dermatology, the multidisciplinary work group identified screening tools to measure disease severity, strategies for management of comorbidities, and the safety and effectiveness of topical, systemic, and phototherapy treatments.

To assess disease severity, the work group recommended not only the use of body surface area (BSA), similar to measurement of severity in adults, but also the use of the Children’s Dermatology Life Quality Index, a 10-question quality of life survey, as BSA alone does not account for the potential negative impact of the disease on quality of life in terms of physical, emotional, social, and psychological function.

“For example, a child with psoriasis limited to the face or the entire scalp does not have severe disease based on BSA definitions, but if this involvement causes shame, social withdrawal, or bullying, it satisfies criteria for severe disease based on impact beyond the skin,” they said.

The work group stated that a variety of conditions may trigger or exacerbate psoriasis in children, including infections, cutaneous trauma, or physiological, emotional, and environmental stressors.

The majority of children with PsA develop joint inflammation before skin disease, the work group wrote. In addition, children with psoriasis are at increased risk for rheumatoid arthritis, so clinicians may need to distinguish between a combination of psoriasis and musculoskeletal issues and cases of either psoriatic or rheumatoid arthritis in young patients.

The cardiovascular risk factors associated with metabolic syndrome are greater in children with psoriasis, compared with children without psoriasis, the work group noted. In addition, pediatric psoriasis patients have a higher prevalence of obesity than children without psoriasis, and they recommended that children with psoriasis be monitored for the development of obesity, and that obese children with psoriasis should be referred for weight management.

The work group noted that data are insufficient in children to support the link between psoriasis and cardiovascular disease that has been documented in adults with psoriasis. However, “patients with pediatric psoriasis should have American Academy of Pediatrics (AAP)–recommended age-related cardiovascular screening regardless of the presence of signs or symptoms,” they said.

The guideline also recommends screening for dyslipidemia and hypertension according to AAP guidelines and educating pediatric psoriasis patients about the risk of diabetes and regularly screening for diabetes and insulin resistance in those who are obese. Overweight children with psoriasis may be screened at the provider’s discretion, they wrote. Patients with signs of inflammatory bowel disease, which also is associated with psoriasis in adults, should be considered for referral to a gastroenterologist, they noted.

Children with psoriasis should be screened regularly for mental health conditions regardless of age, and they should be asked about substance abuse, according to the guideline, and those with concerns should be referred for additional assessment and management.

The guideline divides treatment of psoriasis in children into three categories: topical, phototherapy and photochemotherapy, and systemic treatments (nonbiologic or biologic).

For topicals, the guideline recommendations include corticosteroids as an off-label therapy, as well as ultra-high-potency topical corticosteroids as monotherapy. Overall, “selection of a therapeutic routine (potency, delivery vehicle, frequency of application) should take into account sites of involvement, type and thickness of psoriasis, age of the patient, total BSA of application, anticipated occlusion, and disease acuity, among other patient-, disease-, and drug-related factors,” the authors wrote. Other topical options included in the recommendations: calcineurin inhibitors, topical vitamin D analogues, tazarotene (off label), anthralin, and coal tar.

Phototherapy has a history of use in psoriasis treatment and remains part of the current recommendations, although data in children are limited, and data on the use of phototherapy for pustular psoriasis in children are insufficient to make specific treatment and dosing recommendations, the work group noted. The researchers also noted that in-office phototherapy may not be feasible for many patients, but that in-home ultraviolet light equipment or natural sunlight in moderation could be recommended as an alternative.

The use of systemic, nonbiologic treatments for pediatric psoriasis should be “based on baseline severity of disease, subtype of psoriasis, speed of disease progression, lack of response to more conservative therapies such as topical agents and phototherapy (when appropriate), impaired physical or psychological functioning or [quality of life] due to disease extent, and the presence of comorbidities such as PsA,” the workgroup said.

Options for systemic treatment include methotrexate, cyclosporine (notably for pustular as well as plaque and erythrodermic psoriasis), and systemic retinoids. In addition, fumaric acid esters may be an option for children with moderate to severe psoriasis, with recommended clinical and laboratory monitoring.

The increasing safety and efficacy data on biologics in pediatric psoriasis patients support their consideration among first-line systemic treatments, the work group suggested. “Etanercept and ustekinumab are now [Food and Drug Administration] approved for patients with psoriasis 4 years and older and 12 years and older, respectively,” they said, and infliximab and adalimumab have been used off label in children.

The work group concluded that research and knowledge gaps about pediatric psoriasis persist and include mechanism of disease onset, development of comorbidities, and identification of ideal dosing for various treatments.

Finally, the work group emphasized the importance of collaboration between dermatologists and primary care providers for managing psoriasis in children, as well as the importance of patient education.

“Dermatologists should be mindful of the unique aspects of the emotional development of children and the social dynamics of having a visible difference,” they wrote. “Shared decision making with the patient (if age appropriate) and the caregivers is a useful approach, particularly as related to the use of off-label medications to treat severe disease,” they said.

“This is the first time that pediatric psoriasis has been discussed as an independent topic within the guideline,” said one of the guideline authors, Dawn M.R. Davis, MD, of the Mayo Clinic, Rochester, Minn., in an interview. “Children have unique physiology and psychosocial aspects to their care relative to adults. In addition, psoriasis has some clinical manifestations that are oftentimes distinctly seen in children,” she commented. “Creation of a guideline specific to children allows us to summarize the similarities and differences of disease presentation and management. It also allows an opportunity to clarify what research data (especially therapeutics) have been studied in children and their uses, safety profiles, and dosing,” she noted.

Psoriasis can be a psychosocially debilitating disease, she emphasized. “In children, for example, isolated or prominent facial involvement is common, which can be embarrassing and impact relationships.”

The take-home message for clinicians, Dr. Davis said, is to keep in mind the multisystemic nature of psoriasis. “It is not limited to the skin,” she said. “Treating a patient with psoriasis necessitates practicing whole-person care” and considering the multiple comorbidities that impact quality of life and overall health in children, as well as adults with psoriasis, she commented. “Dermatologists can empower patients and their caregivers by educating them on the multifocal, complex nature of the disease.” She added, “We have much to learn regarding psoriasis in the pediatric population. More research into therapeutics, topical and systemic, is necessary to optimize patient care.”

The guideline was based on studies published in the PubMed and MEDLINE databases from January 2011 through December 31, 2017.

Dr. Menter and Craig A. Elmets, MD, professor of dermatology, at the University of Alabama, Birmingham, were cochairs of the work group. The pediatric guideline is the latest in a multipart series of AAD-NPF guidelines on psoriasis being published this year in the Journal of the American Academy of Dermatology.

Many of the guideline authors, including lead author Dr. Menter, disclosed relationships with multiple companies; however, a minimum 51% of workgroup members had no relevant conflicts of interest in accordance with AAD policy. There was no funding source. Dr. Davis disclosed serving as an investigator for Regeneron, with no compensation.

SOURCE: Menter et al. J Am Acad Dermatol. 2019. doi: 10.1016/j.jaad.2019.08.049.

Psoriasis management in children involves attention not only to treatment of the physical condition but also psychosocial wellness and quality of life, according to a new clinical guideline on the management of pediatric psoriasis from the American Academy of Dermatology and the National Psoriasis Foundation.

Psoriasis affects approximately 1% of children, either alone or associated with comorbid conditions such as psoriatic arthritis (PsA), wrote Alan Menter, MD, of Baylor University Medical Center, Dallas, and coauthors of the guideline.

In the guideline, published in the Journal of the American Academy of Dermatology, the multidisciplinary work group identified screening tools to measure disease severity, strategies for management of comorbidities, and the safety and effectiveness of topical, systemic, and phototherapy treatments.

To assess disease severity, the work group recommended not only the use of body surface area (BSA), similar to measurement of severity in adults, but also the use of the Children’s Dermatology Life Quality Index, a 10-question quality of life survey, as BSA alone does not account for the potential negative impact of the disease on quality of life in terms of physical, emotional, social, and psychological function.

“For example, a child with psoriasis limited to the face or the entire scalp does not have severe disease based on BSA definitions, but if this involvement causes shame, social withdrawal, or bullying, it satisfies criteria for severe disease based on impact beyond the skin,” they said.

The work group stated that a variety of conditions may trigger or exacerbate psoriasis in children, including infections, cutaneous trauma, or physiological, emotional, and environmental stressors.

The majority of children with PsA develop joint inflammation before skin disease, the work group wrote. In addition, children with psoriasis are at increased risk for rheumatoid arthritis, so clinicians may need to distinguish between a combination of psoriasis and musculoskeletal issues and cases of either psoriatic or rheumatoid arthritis in young patients.

The cardiovascular risk factors associated with metabolic syndrome are greater in children with psoriasis, compared with children without psoriasis, the work group noted. In addition, pediatric psoriasis patients have a higher prevalence of obesity than children without psoriasis, and they recommended that children with psoriasis be monitored for the development of obesity, and that obese children with psoriasis should be referred for weight management.

The work group noted that data are insufficient in children to support the link between psoriasis and cardiovascular disease that has been documented in adults with psoriasis. However, “patients with pediatric psoriasis should have American Academy of Pediatrics (AAP)–recommended age-related cardiovascular screening regardless of the presence of signs or symptoms,” they said.

The guideline also recommends screening for dyslipidemia and hypertension according to AAP guidelines and educating pediatric psoriasis patients about the risk of diabetes and regularly screening for diabetes and insulin resistance in those who are obese. Overweight children with psoriasis may be screened at the provider’s discretion, they wrote. Patients with signs of inflammatory bowel disease, which also is associated with psoriasis in adults, should be considered for referral to a gastroenterologist, they noted.

Children with psoriasis should be screened regularly for mental health conditions regardless of age, and they should be asked about substance abuse, according to the guideline, and those with concerns should be referred for additional assessment and management.

The guideline divides treatment of psoriasis in children into three categories: topical, phototherapy and photochemotherapy, and systemic treatments (nonbiologic or biologic).

For topicals, the guideline recommendations include corticosteroids as an off-label therapy, as well as ultra-high-potency topical corticosteroids as monotherapy. Overall, “selection of a therapeutic routine (potency, delivery vehicle, frequency of application) should take into account sites of involvement, type and thickness of psoriasis, age of the patient, total BSA of application, anticipated occlusion, and disease acuity, among other patient-, disease-, and drug-related factors,” the authors wrote. Other topical options included in the recommendations: calcineurin inhibitors, topical vitamin D analogues, tazarotene (off label), anthralin, and coal tar.

Phototherapy has a history of use in psoriasis treatment and remains part of the current recommendations, although data in children are limited, and data on the use of phototherapy for pustular psoriasis in children are insufficient to make specific treatment and dosing recommendations, the work group noted. The researchers also noted that in-office phototherapy may not be feasible for many patients, but that in-home ultraviolet light equipment or natural sunlight in moderation could be recommended as an alternative.

The use of systemic, nonbiologic treatments for pediatric psoriasis should be “based on baseline severity of disease, subtype of psoriasis, speed of disease progression, lack of response to more conservative therapies such as topical agents and phototherapy (when appropriate), impaired physical or psychological functioning or [quality of life] due to disease extent, and the presence of comorbidities such as PsA,” the workgroup said.

Options for systemic treatment include methotrexate, cyclosporine (notably for pustular as well as plaque and erythrodermic psoriasis), and systemic retinoids. In addition, fumaric acid esters may be an option for children with moderate to severe psoriasis, with recommended clinical and laboratory monitoring.

The increasing safety and efficacy data on biologics in pediatric psoriasis patients support their consideration among first-line systemic treatments, the work group suggested. “Etanercept and ustekinumab are now [Food and Drug Administration] approved for patients with psoriasis 4 years and older and 12 years and older, respectively,” they said, and infliximab and adalimumab have been used off label in children.

The work group concluded that research and knowledge gaps about pediatric psoriasis persist and include mechanism of disease onset, development of comorbidities, and identification of ideal dosing for various treatments.

Finally, the work group emphasized the importance of collaboration between dermatologists and primary care providers for managing psoriasis in children, as well as the importance of patient education.

“Dermatologists should be mindful of the unique aspects of the emotional development of children and the social dynamics of having a visible difference,” they wrote. “Shared decision making with the patient (if age appropriate) and the caregivers is a useful approach, particularly as related to the use of off-label medications to treat severe disease,” they said.

“This is the first time that pediatric psoriasis has been discussed as an independent topic within the guideline,” said one of the guideline authors, Dawn M.R. Davis, MD, of the Mayo Clinic, Rochester, Minn., in an interview. “Children have unique physiology and psychosocial aspects to their care relative to adults. In addition, psoriasis has some clinical manifestations that are oftentimes distinctly seen in children,” she commented. “Creation of a guideline specific to children allows us to summarize the similarities and differences of disease presentation and management. It also allows an opportunity to clarify what research data (especially therapeutics) have been studied in children and their uses, safety profiles, and dosing,” she noted.

Psoriasis can be a psychosocially debilitating disease, she emphasized. “In children, for example, isolated or prominent facial involvement is common, which can be embarrassing and impact relationships.”

The take-home message for clinicians, Dr. Davis said, is to keep in mind the multisystemic nature of psoriasis. “It is not limited to the skin,” she said. “Treating a patient with psoriasis necessitates practicing whole-person care” and considering the multiple comorbidities that impact quality of life and overall health in children, as well as adults with psoriasis, she commented. “Dermatologists can empower patients and their caregivers by educating them on the multifocal, complex nature of the disease.” She added, “We have much to learn regarding psoriasis in the pediatric population. More research into therapeutics, topical and systemic, is necessary to optimize patient care.”

The guideline was based on studies published in the PubMed and MEDLINE databases from January 2011 through December 31, 2017.

Dr. Menter and Craig A. Elmets, MD, professor of dermatology, at the University of Alabama, Birmingham, were cochairs of the work group. The pediatric guideline is the latest in a multipart series of AAD-NPF guidelines on psoriasis being published this year in the Journal of the American Academy of Dermatology.

Many of the guideline authors, including lead author Dr. Menter, disclosed relationships with multiple companies; however, a minimum 51% of workgroup members had no relevant conflicts of interest in accordance with AAD policy. There was no funding source. Dr. Davis disclosed serving as an investigator for Regeneron, with no compensation.

SOURCE: Menter et al. J Am Acad Dermatol. 2019. doi: 10.1016/j.jaad.2019.08.049.

BOSTON – Fenofibrate is safe and effective for limiting triglyceride increases in patients with nonalcoholic steatohepatitis and advanced fibrosis, based on data from 31 adults.

Treatment of NASH with acetyl-CoA carboxylase inhibitors has been shown to improve liver fat and other liver conditions but may be associated with hyperlipidemia, according to Eric J. Lawitz, MD, of the University of Texas Health, San Antonio, and colleagues. The researchers examined the safety and effectiveness of fenofibrate to mitigate serum triglyceride increases in a study be presented in a late-breaking session at the annual meeting of the American Association for the Study of Liver Diseases.

The researchers randomized 15 patients to treatment with 48 mg of fenofibrate or 145 mg of fenofibrate once daily for 2 weeks, followed by a combination of the fenofibrate doses plus 20 mg of ACC inhibitor firsocostat daily for 24 weeks.

The median fasting triglycerides (TG) in the 48-mg and 145-mg fenofibrate groups were 218 mg/dL and 202 mg/dL, respectively. After 2 weeks, the median change in TG was +2 mg/dL in the 48-mg group and –42 mg/dL in the 145-mg group. After 24 weeks of combination therapy, TG levels were not significantly different from baseline in either group (+19 mg/dL in 48-mg group and +6 mg/dL in the 145-mg group). Significant reductions in serum alanine aminotransferase from baseline to week 24 occurred in the combined groups (median of 39 U/L vs. 27 U/L, respectively). In addition, 43% of patients overall showed at least a 30% reduction in protein density fat fraction.

Both firsocostat and fenofibrate were well tolerated, the researchers said. One treatment-emergent grade 3 TG elevation (defined as greater than 500 mg/dL) occurred in the 48-mg group at week 24. No hepatotoxicity was noted, no patients discontinued therapy because of adverse events, and no other grade 3 or 4 adverse events were reported.

“The combination of firsocostat and fenofibrate led to improvements in hepatic fat, liver biochemistry, and markers of fibrosis,” the researchers concluded in their abstract.

Lead author Dr. Lawitz disclosed financial relationships with Allergan, Akcea Therapeutics, Bristol-Myers Squibb, Boehringer Ingelheim, Gilead Sciences, Madrigal Pharmaceuticals, and Novartis.

The AGA GI Patient Center provides education to help your patients understand NASH at https://www.gastro.org/practice-guidance/gi-patient-center/topic/nonalcoholic-steatohepatitis-nash.

SOURCE: Lawitz E et al. The Liver Meeting 2019. Presentation LP5.

BOSTON – Fenofibrate is safe and effective for limiting triglyceride increases in patients with nonalcoholic steatohepatitis and advanced fibrosis, based on data from 31 adults.

Treatment of NASH with acetyl-CoA carboxylase inhibitors has been shown to improve liver fat and other liver conditions but may be associated with hyperlipidemia, according to Eric J. Lawitz, MD, of the University of Texas Health, San Antonio, and colleagues. The researchers examined the safety and effectiveness of fenofibrate to mitigate serum triglyceride increases in a study be presented in a late-breaking session at the annual meeting of the American Association for the Study of Liver Diseases.

The researchers randomized 15 patients to treatment with 48 mg of fenofibrate or 145 mg of fenofibrate once daily for 2 weeks, followed by a combination of the fenofibrate doses plus 20 mg of ACC inhibitor firsocostat daily for 24 weeks.

The median fasting triglycerides (TG) in the 48-mg and 145-mg fenofibrate groups were 218 mg/dL and 202 mg/dL, respectively. After 2 weeks, the median change in TG was +2 mg/dL in the 48-mg group and –42 mg/dL in the 145-mg group. After 24 weeks of combination therapy, TG levels were not significantly different from baseline in either group (+19 mg/dL in 48-mg group and +6 mg/dL in the 145-mg group). Significant reductions in serum alanine aminotransferase from baseline to week 24 occurred in the combined groups (median of 39 U/L vs. 27 U/L, respectively). In addition, 43% of patients overall showed at least a 30% reduction in protein density fat fraction.

Both firsocostat and fenofibrate were well tolerated, the researchers said. One treatment-emergent grade 3 TG elevation (defined as greater than 500 mg/dL) occurred in the 48-mg group at week 24. No hepatotoxicity was noted, no patients discontinued therapy because of adverse events, and no other grade 3 or 4 adverse events were reported.

“The combination of firsocostat and fenofibrate led to improvements in hepatic fat, liver biochemistry, and markers of fibrosis,” the researchers concluded in their abstract.

Lead author Dr. Lawitz disclosed financial relationships with Allergan, Akcea Therapeutics, Bristol-Myers Squibb, Boehringer Ingelheim, Gilead Sciences, Madrigal Pharmaceuticals, and Novartis.

The AGA GI Patient Center provides education to help your patients understand NASH at https://www.gastro.org/practice-guidance/gi-patient-center/topic/nonalcoholic-steatohepatitis-nash.

SOURCE: Lawitz E et al. The Liver Meeting 2019. Presentation LP5.

BOSTON – Fenofibrate is safe and effective for limiting triglyceride increases in patients with nonalcoholic steatohepatitis and advanced fibrosis, based on data from 31 adults.

Treatment of NASH with acetyl-CoA carboxylase inhibitors has been shown to improve liver fat and other liver conditions but may be associated with hyperlipidemia, according to Eric J. Lawitz, MD, of the University of Texas Health, San Antonio, and colleagues. The researchers examined the safety and effectiveness of fenofibrate to mitigate serum triglyceride increases in a study be presented in a late-breaking session at the annual meeting of the American Association for the Study of Liver Diseases.

The researchers randomized 15 patients to treatment with 48 mg of fenofibrate or 145 mg of fenofibrate once daily for 2 weeks, followed by a combination of the fenofibrate doses plus 20 mg of ACC inhibitor firsocostat daily for 24 weeks.

The median fasting triglycerides (TG) in the 48-mg and 145-mg fenofibrate groups were 218 mg/dL and 202 mg/dL, respectively. After 2 weeks, the median change in TG was +2 mg/dL in the 48-mg group and –42 mg/dL in the 145-mg group. After 24 weeks of combination therapy, TG levels were not significantly different from baseline in either group (+19 mg/dL in 48-mg group and +6 mg/dL in the 145-mg group). Significant reductions in serum alanine aminotransferase from baseline to week 24 occurred in the combined groups (median of 39 U/L vs. 27 U/L, respectively). In addition, 43% of patients overall showed at least a 30% reduction in protein density fat fraction.

Both firsocostat and fenofibrate were well tolerated, the researchers said. One treatment-emergent grade 3 TG elevation (defined as greater than 500 mg/dL) occurred in the 48-mg group at week 24. No hepatotoxicity was noted, no patients discontinued therapy because of adverse events, and no other grade 3 or 4 adverse events were reported.

“The combination of firsocostat and fenofibrate led to improvements in hepatic fat, liver biochemistry, and markers of fibrosis,” the researchers concluded in their abstract.

Lead author Dr. Lawitz disclosed financial relationships with Allergan, Akcea Therapeutics, Bristol-Myers Squibb, Boehringer Ingelheim, Gilead Sciences, Madrigal Pharmaceuticals, and Novartis.

The AGA GI Patient Center provides education to help your patients understand NASH at https://www.gastro.org/practice-guidance/gi-patient-center/topic/nonalcoholic-steatohepatitis-nash.

SOURCE: Lawitz E et al. The Liver Meeting 2019. Presentation LP5.

Biologic-naive patients with psoriasis or psoriatic arthritis had a lower risk of serious infection with interleukin-12/23 (IL-12/23) inhibitors than they did with tumor necrosis factor (TNF) inhibitors, but this difference disappeared in patients with previous exposure to biologics, according to data from a retrospective study of nearly 10,000 adults.

Biologics, though effective, can increase the risk for serious infection in psoriatic arthritis and psoriasis patients, and comparison data on the safety of various biologics are limited, wrote Xintong Li of Johns Hopkins University, Baltimore, and colleagues.

In a study published in Annals of the Rheumatic Diseases, the researchers identified 11,560 treatment episodes for 9,305 adults during January 1, 2015, through May 1, 2018, which included 6,043 episodes of psoriasis only, 1,869 episodes of psoriatic arthritis only, and 3,648 episodes of both conditions. The average age of the patients was 46 years, and 53% were men. The investigators studied the IL-12/23 inhibitor ustekinumab (Stelara), the IL-17A inhibitors secukinumab (Cosentyx) and ixekizumab (Taltz), and TNF inhibitors adalimumab (Humira), certolizumab pegol (Cimzia), etanercept (Enbrel), golimumab (Simponi), and infliximab (Remicade). They did not study the interleukin-17 (IL-17) inhibitor brodalumab (Siliq) or IL-23 inhibitors guselkumab (Tremfya), risankizumab (Skyrizi), or tildrakizumab (Ilumya) since they were FDA approved after or toward the end of the study period.

The primary outcome of serious infection, defined as hospitalization with infection as part of the diagnostic codes, occurred in 190 cases (2% of all treatment episodes); the most common serious infections were sepsis and pneumonia.

Overall, new biologics users had similar infection risks with IL-17 and TNF inhibitors, with incidence rates per 100 person-years of 3.4 and 2.2, respectively. By contrast, the incidence rate per 100 person-years was 0.9 with IL-12/23 inhibitors. Incidence rates were similar across all three biologic types for experienced biologics users.

The researchers also grouped patients by condition, including both treatment-naive and -experienced patients. Of the 156 serious infections in psoriasis patients, 26 occurred with IL-17 inhibitors, 29 with IL-12/23 inhibitors, and 101 with TNF inhibitors. Of 105 serious infections in the psoriatic arthritis group, 14 occurred with IL-17, 13 with IL-12/23, and 78 with TNF.

After adjusting for propensity scores, researchers found no evidence of increased serious infection risk for treatment with IL-17 inhibitors, compared with IL-12/23 (hazard ratio, 1.12; 95% confidence interval, 0.62-2.03) or TNF inhibitors (HR, 0.89; 95% CI, 0.48-1.66).

The study findings were limited by several factors, including the use of ICD diagnostic codes that were not fully validated in the patient population, a short follow-up period, and inclusion of only insured patients in the United States, the researchers noted.

However, the results suggest that serious infection risk may vary between patients with psoriasis and psoriatic arthritis, and between biologic-naive and -experienced patients, and that, despite the relatively small difference in absolute effect, “this potentially clinically relevant signal for reduced infections among the IL-12/23 inhibitors warrants further investigation and surveillance efforts,” they concluded. In addition, they said, the findings might guide clinicians and patients in choosing appropriate biologics for a particular condition.

The study was supported by the Center for Drug Safety and Effectiveness at the Johns Hopkins Bloomberg School of Public Health. The researchers had no financial conflicts to disclose. Ms. Li conducted the research while she was at Johns Hopkins, but is now with the University of North Carolina, Chapel Hill.
 

SOURCE: Li X et al. Ann Rheum Dis. 2019 Oct 31. doi: 10.1136/annrheumdis-2019-216102.

Biologic-naive patients with psoriasis or psoriatic arthritis had a lower risk of serious infection with interleukin-12/23 (IL-12/23) inhibitors than they did with tumor necrosis factor (TNF) inhibitors, but this difference disappeared in patients with previous exposure to biologics, according to data from a retrospective study of nearly 10,000 adults.

Biologics, though effective, can increase the risk for serious infection in psoriatic arthritis and psoriasis patients, and comparison data on the safety of various biologics are limited, wrote Xintong Li of Johns Hopkins University, Baltimore, and colleagues.

In a study published in Annals of the Rheumatic Diseases, the researchers identified 11,560 treatment episodes for 9,305 adults during January 1, 2015, through May 1, 2018, which included 6,043 episodes of psoriasis only, 1,869 episodes of psoriatic arthritis only, and 3,648 episodes of both conditions. The average age of the patients was 46 years, and 53% were men. The investigators studied the IL-12/23 inhibitor ustekinumab (Stelara), the IL-17A inhibitors secukinumab (Cosentyx) and ixekizumab (Taltz), and TNF inhibitors adalimumab (Humira), certolizumab pegol (Cimzia), etanercept (Enbrel), golimumab (Simponi), and infliximab (Remicade). They did not study the interleukin-17 (IL-17) inhibitor brodalumab (Siliq) or IL-23 inhibitors guselkumab (Tremfya), risankizumab (Skyrizi), or tildrakizumab (Ilumya) since they were FDA approved after or toward the end of the study period.

The primary outcome of serious infection, defined as hospitalization with infection as part of the diagnostic codes, occurred in 190 cases (2% of all treatment episodes); the most common serious infections were sepsis and pneumonia.

Overall, new biologics users had similar infection risks with IL-17 and TNF inhibitors, with incidence rates per 100 person-years of 3.4 and 2.2, respectively. By contrast, the incidence rate per 100 person-years was 0.9 with IL-12/23 inhibitors. Incidence rates were similar across all three biologic types for experienced biologics users.

The researchers also grouped patients by condition, including both treatment-naive and -experienced patients. Of the 156 serious infections in psoriasis patients, 26 occurred with IL-17 inhibitors, 29 with IL-12/23 inhibitors, and 101 with TNF inhibitors. Of 105 serious infections in the psoriatic arthritis group, 14 occurred with IL-17, 13 with IL-12/23, and 78 with TNF.

After adjusting for propensity scores, researchers found no evidence of increased serious infection risk for treatment with IL-17 inhibitors, compared with IL-12/23 (hazard ratio, 1.12; 95% confidence interval, 0.62-2.03) or TNF inhibitors (HR, 0.89; 95% CI, 0.48-1.66).

The study findings were limited by several factors, including the use of ICD diagnostic codes that were not fully validated in the patient population, a short follow-up period, and inclusion of only insured patients in the United States, the researchers noted.

However, the results suggest that serious infection risk may vary between patients with psoriasis and psoriatic arthritis, and between biologic-naive and -experienced patients, and that, despite the relatively small difference in absolute effect, “this potentially clinically relevant signal for reduced infections among the IL-12/23 inhibitors warrants further investigation and surveillance efforts,” they concluded. In addition, they said, the findings might guide clinicians and patients in choosing appropriate biologics for a particular condition.

The study was supported by the Center for Drug Safety and Effectiveness at the Johns Hopkins Bloomberg School of Public Health. The researchers had no financial conflicts to disclose. Ms. Li conducted the research while she was at Johns Hopkins, but is now with the University of North Carolina, Chapel Hill.
 

SOURCE: Li X et al. Ann Rheum Dis. 2019 Oct 31. doi: 10.1136/annrheumdis-2019-216102.

Biologic-naive patients with psoriasis or psoriatic arthritis had a lower risk of serious infection with interleukin-12/23 (IL-12/23) inhibitors than they did with tumor necrosis factor (TNF) inhibitors, but this difference disappeared in patients with previous exposure to biologics, according to data from a retrospective study of nearly 10,000 adults.

Biologics, though effective, can increase the risk for serious infection in psoriatic arthritis and psoriasis patients, and comparison data on the safety of various biologics are limited, wrote Xintong Li of Johns Hopkins University, Baltimore, and colleagues.

In a study published in Annals of the Rheumatic Diseases, the researchers identified 11,560 treatment episodes for 9,305 adults during January 1, 2015, through May 1, 2018, which included 6,043 episodes of psoriasis only, 1,869 episodes of psoriatic arthritis only, and 3,648 episodes of both conditions. The average age of the patients was 46 years, and 53% were men. The investigators studied the IL-12/23 inhibitor ustekinumab (Stelara), the IL-17A inhibitors secukinumab (Cosentyx) and ixekizumab (Taltz), and TNF inhibitors adalimumab (Humira), certolizumab pegol (Cimzia), etanercept (Enbrel), golimumab (Simponi), and infliximab (Remicade). They did not study the interleukin-17 (IL-17) inhibitor brodalumab (Siliq) or IL-23 inhibitors guselkumab (Tremfya), risankizumab (Skyrizi), or tildrakizumab (Ilumya) since they were FDA approved after or toward the end of the study period.

The primary outcome of serious infection, defined as hospitalization with infection as part of the diagnostic codes, occurred in 190 cases (2% of all treatment episodes); the most common serious infections were sepsis and pneumonia.

Overall, new biologics users had similar infection risks with IL-17 and TNF inhibitors, with incidence rates per 100 person-years of 3.4 and 2.2, respectively. By contrast, the incidence rate per 100 person-years was 0.9 with IL-12/23 inhibitors. Incidence rates were similar across all three biologic types for experienced biologics users.

The researchers also grouped patients by condition, including both treatment-naive and -experienced patients. Of the 156 serious infections in psoriasis patients, 26 occurred with IL-17 inhibitors, 29 with IL-12/23 inhibitors, and 101 with TNF inhibitors. Of 105 serious infections in the psoriatic arthritis group, 14 occurred with IL-17, 13 with IL-12/23, and 78 with TNF.

After adjusting for propensity scores, researchers found no evidence of increased serious infection risk for treatment with IL-17 inhibitors, compared with IL-12/23 (hazard ratio, 1.12; 95% confidence interval, 0.62-2.03) or TNF inhibitors (HR, 0.89; 95% CI, 0.48-1.66).

The study findings were limited by several factors, including the use of ICD diagnostic codes that were not fully validated in the patient population, a short follow-up period, and inclusion of only insured patients in the United States, the researchers noted.

However, the results suggest that serious infection risk may vary between patients with psoriasis and psoriatic arthritis, and between biologic-naive and -experienced patients, and that, despite the relatively small difference in absolute effect, “this potentially clinically relevant signal for reduced infections among the IL-12/23 inhibitors warrants further investigation and surveillance efforts,” they concluded. In addition, they said, the findings might guide clinicians and patients in choosing appropriate biologics for a particular condition.

The study was supported by the Center for Drug Safety and Effectiveness at the Johns Hopkins Bloomberg School of Public Health. The researchers had no financial conflicts to disclose. Ms. Li conducted the research while she was at Johns Hopkins, but is now with the University of North Carolina, Chapel Hill.
 

SOURCE: Li X et al. Ann Rheum Dis. 2019 Oct 31. doi: 10.1136/annrheumdis-2019-216102.

WASHINGTON– Gene therapy for the treatment of rare diseases continues to develop and new products are entering the pipeline; however, more work is needed to make the gene therapy experience easier on patients and their families, according to members of a panel at the NORD Rare Diseases & Orphan Product Breakthrough Summit, held by the National Organization for Rare Disorders.

Companies developing gene therapy cite their main challenges as identifying patients, developing clinical trials, coordinating treatment and supporting families, managing reimbursement, and manufacturing the treatment, said Mark Rothera, president and CEO of Orchard Therapeutics, developer of ex vivo autologous hematopoietic stem cell gene therapy.

For families of patients with rare diseases who are undergoing gene therapy, challenges include struggles such as language barriers, lack of wifi, and separation from other family members for extended periods, according to Amy Price, mother of a gene therapy recipient, as well as principal consultant to Rarallel and an advocate for metachromatic leukodystrophy.

Ms. Price cited a survey she conducted of families with children who underwent gene therapy. She collected data from 16 families about their initial visit as part of a gene therapy trial; the trials included 14 families in Milan; 1 in Bethesda, Md.; and 1 in Paris. The average age of the patients at the start of the trial was 3 years, with a range of 8 months to 11 years. The trials were conducted between 1990 and 2018.

Families participating in the trials spent an average of 5.5 months in the city where the trial was conducted, and an average of 48 days in an isolation ward with their child at the start of the study.

The five biggest challenges were financial well-being (cited by 60% of survey respondents), social isolation/being away from support system (60%), fear of the unknown/long-term treatment diagnosis (73%), family separation (67%), and caring for other children simultaneous during the trial period (60%).

In addition, patients averaged 12 follow-up visits, and the most common secondary challenges cited in the survey included time spent at the hospital, emotional and physical stress on the patient, fear of test results and outcomes, exhaustion, time away from work and school, and travel logistics.

Other stressors include language barriers and not being in children’s hospital, Ms. Price said.

Ms. Price proposed patient-focused solutions such as addressing cultural challenges, connecting families to local resources, and providing clinical follow-up locally to reduce the burden of travel to the trial site.

WASHINGTON– Gene therapy for the treatment of rare diseases continues to develop and new products are entering the pipeline; however, more work is needed to make the gene therapy experience easier on patients and their families, according to members of a panel at the NORD Rare Diseases & Orphan Product Breakthrough Summit, held by the National Organization for Rare Disorders.

Companies developing gene therapy cite their main challenges as identifying patients, developing clinical trials, coordinating treatment and supporting families, managing reimbursement, and manufacturing the treatment, said Mark Rothera, president and CEO of Orchard Therapeutics, developer of ex vivo autologous hematopoietic stem cell gene therapy.

For families of patients with rare diseases who are undergoing gene therapy, challenges include struggles such as language barriers, lack of wifi, and separation from other family members for extended periods, according to Amy Price, mother of a gene therapy recipient, as well as principal consultant to Rarallel and an advocate for metachromatic leukodystrophy.

Ms. Price cited a survey she conducted of families with children who underwent gene therapy. She collected data from 16 families about their initial visit as part of a gene therapy trial; the trials included 14 families in Milan; 1 in Bethesda, Md.; and 1 in Paris. The average age of the patients at the start of the trial was 3 years, with a range of 8 months to 11 years. The trials were conducted between 1990 and 2018.

Families participating in the trials spent an average of 5.5 months in the city where the trial was conducted, and an average of 48 days in an isolation ward with their child at the start of the study.

The five biggest challenges were financial well-being (cited by 60% of survey respondents), social isolation/being away from support system (60%), fear of the unknown/long-term treatment diagnosis (73%), family separation (67%), and caring for other children simultaneous during the trial period (60%).

In addition, patients averaged 12 follow-up visits, and the most common secondary challenges cited in the survey included time spent at the hospital, emotional and physical stress on the patient, fear of test results and outcomes, exhaustion, time away from work and school, and travel logistics.

Other stressors include language barriers and not being in children’s hospital, Ms. Price said.

Ms. Price proposed patient-focused solutions such as addressing cultural challenges, connecting families to local resources, and providing clinical follow-up locally to reduce the burden of travel to the trial site.

WASHINGTON– Gene therapy for the treatment of rare diseases continues to develop and new products are entering the pipeline; however, more work is needed to make the gene therapy experience easier on patients and their families, according to members of a panel at the NORD Rare Diseases & Orphan Product Breakthrough Summit, held by the National Organization for Rare Disorders.

Companies developing gene therapy cite their main challenges as identifying patients, developing clinical trials, coordinating treatment and supporting families, managing reimbursement, and manufacturing the treatment, said Mark Rothera, president and CEO of Orchard Therapeutics, developer of ex vivo autologous hematopoietic stem cell gene therapy.

For families of patients with rare diseases who are undergoing gene therapy, challenges include struggles such as language barriers, lack of wifi, and separation from other family members for extended periods, according to Amy Price, mother of a gene therapy recipient, as well as principal consultant to Rarallel and an advocate for metachromatic leukodystrophy.

Ms. Price cited a survey she conducted of families with children who underwent gene therapy. She collected data from 16 families about their initial visit as part of a gene therapy trial; the trials included 14 families in Milan; 1 in Bethesda, Md.; and 1 in Paris. The average age of the patients at the start of the trial was 3 years, with a range of 8 months to 11 years. The trials were conducted between 1990 and 2018.

Families participating in the trials spent an average of 5.5 months in the city where the trial was conducted, and an average of 48 days in an isolation ward with their child at the start of the study.

The five biggest challenges were financial well-being (cited by 60% of survey respondents), social isolation/being away from support system (60%), fear of the unknown/long-term treatment diagnosis (73%), family separation (67%), and caring for other children simultaneous during the trial period (60%).

In addition, patients averaged 12 follow-up visits, and the most common secondary challenges cited in the survey included time spent at the hospital, emotional and physical stress on the patient, fear of test results and outcomes, exhaustion, time away from work and school, and travel logistics.

Other stressors include language barriers and not being in children’s hospital, Ms. Price said.

Ms. Price proposed patient-focused solutions such as addressing cultural challenges, connecting families to local resources, and providing clinical follow-up locally to reduce the burden of travel to the trial site.

WASHINGTON – Early diagnosis and intervention for genetic diseases using the latest carrier screening can allow families to be prepared and informed prior to pregnancy, said Aishwarya Arjunan, MS, MPH, a clinical product specialist for carrier screening at Myriad Women’s Health, part of a diagnostic testing company based in Salt Lake City, Utah.

Piolinfax/Wikimedia Commons/GNU Free Documentation License

“Rare diseases are responsible for 35% of deaths in the first year of life,” she said in a panel discussion at the Rare Diseases and Orphan Products Breakthrough Summit sponsored by the National Organization for Rare Disorders.

Most patients with rare diseases go through a “diagnostic odyssey” lasting an average of 8 years before they receive an accurate diagnosis, she said. During this time, data suggest that they have likely been misdiagnosed three times and have seen more than 10 specialists, she added.

Barriers to genetic screening include limited access to genetics professionals, lack of patient and provider education about screening, issues of insurance coverage and reimbursement, coding challenges, and misperceptions about the perceived impact of screening, noted Jodie Vento, manager of the Center for Rare Disease Therapy at the Children’s Hospital of Pittsburgh.

The genetic carrier screening options, often referred to as panethnic expanded carrier screening, represents a change from previous screening protocols based on ethnicity, said Ms. Arjunan. However, guidelines for screening based on ethnicity “misses a significant percentage of pregnancies affected by serious conditions and widens the health disparity gap,” she said.

By contrast, expanded carrier screening allows for standardization of care that gives couples and families information to make decisions and preparations.

Current genetic testing strategies include single gene testing, in which a single gene of interest is tested; multigene panel testing, in which a subset of clinically important genes are tested; whole-exome sequencing, in which the DNA responsible for coding proteins is tested; and whole-genome sequencing, in which the entire human genome is tested for genetic disorders.

Improving access to genetic testing involves a combination of provider education, changes in payer policies, action by advocacy groups, and adjustment of societal guidelines, said Ms. Arjunan. However, the advantages of expanded carrier screening are many and include guiding patients to expert care early and setting up plans for long-term care and follow-up, she noted. In addition, early identification through screening can help patients reduce or eliminate the diagnostic odyssey and connect with advocacy and community groups for support, she concluded.

The presenters had no financial conflicts to disclose.

WASHINGTON – Early diagnosis and intervention for genetic diseases using the latest carrier screening can allow families to be prepared and informed prior to pregnancy, said Aishwarya Arjunan, MS, MPH, a clinical product specialist for carrier screening at Myriad Women’s Health, part of a diagnostic testing company based in Salt Lake City, Utah.

Piolinfax/Wikimedia Commons/GNU Free Documentation License

“Rare diseases are responsible for 35% of deaths in the first year of life,” she said in a panel discussion at the Rare Diseases and Orphan Products Breakthrough Summit sponsored by the National Organization for Rare Disorders.

Most patients with rare diseases go through a “diagnostic odyssey” lasting an average of 8 years before they receive an accurate diagnosis, she said. During this time, data suggest that they have likely been misdiagnosed three times and have seen more than 10 specialists, she added.

Barriers to genetic screening include limited access to genetics professionals, lack of patient and provider education about screening, issues of insurance coverage and reimbursement, coding challenges, and misperceptions about the perceived impact of screening, noted Jodie Vento, manager of the Center for Rare Disease Therapy at the Children’s Hospital of Pittsburgh.

The genetic carrier screening options, often referred to as panethnic expanded carrier screening, represents a change from previous screening protocols based on ethnicity, said Ms. Arjunan. However, guidelines for screening based on ethnicity “misses a significant percentage of pregnancies affected by serious conditions and widens the health disparity gap,” she said.

By contrast, expanded carrier screening allows for standardization of care that gives couples and families information to make decisions and preparations.

Current genetic testing strategies include single gene testing, in which a single gene of interest is tested; multigene panel testing, in which a subset of clinically important genes are tested; whole-exome sequencing, in which the DNA responsible for coding proteins is tested; and whole-genome sequencing, in which the entire human genome is tested for genetic disorders.

Improving access to genetic testing involves a combination of provider education, changes in payer policies, action by advocacy groups, and adjustment of societal guidelines, said Ms. Arjunan. However, the advantages of expanded carrier screening are many and include guiding patients to expert care early and setting up plans for long-term care and follow-up, she noted. In addition, early identification through screening can help patients reduce or eliminate the diagnostic odyssey and connect with advocacy and community groups for support, she concluded.

The presenters had no financial conflicts to disclose.

WASHINGTON – Early diagnosis and intervention for genetic diseases using the latest carrier screening can allow families to be prepared and informed prior to pregnancy, said Aishwarya Arjunan, MS, MPH, a clinical product specialist for carrier screening at Myriad Women’s Health, part of a diagnostic testing company based in Salt Lake City, Utah.

Piolinfax/Wikimedia Commons/GNU Free Documentation License

“Rare diseases are responsible for 35% of deaths in the first year of life,” she said in a panel discussion at the Rare Diseases and Orphan Products Breakthrough Summit sponsored by the National Organization for Rare Disorders.

Most patients with rare diseases go through a “diagnostic odyssey” lasting an average of 8 years before they receive an accurate diagnosis, she said. During this time, data suggest that they have likely been misdiagnosed three times and have seen more than 10 specialists, she added.

Barriers to genetic screening include limited access to genetics professionals, lack of patient and provider education about screening, issues of insurance coverage and reimbursement, coding challenges, and misperceptions about the perceived impact of screening, noted Jodie Vento, manager of the Center for Rare Disease Therapy at the Children’s Hospital of Pittsburgh.

The genetic carrier screening options, often referred to as panethnic expanded carrier screening, represents a change from previous screening protocols based on ethnicity, said Ms. Arjunan. However, guidelines for screening based on ethnicity “misses a significant percentage of pregnancies affected by serious conditions and widens the health disparity gap,” she said.

By contrast, expanded carrier screening allows for standardization of care that gives couples and families information to make decisions and preparations.

Current genetic testing strategies include single gene testing, in which a single gene of interest is tested; multigene panel testing, in which a subset of clinically important genes are tested; whole-exome sequencing, in which the DNA responsible for coding proteins is tested; and whole-genome sequencing, in which the entire human genome is tested for genetic disorders.

Improving access to genetic testing involves a combination of provider education, changes in payer policies, action by advocacy groups, and adjustment of societal guidelines, said Ms. Arjunan. However, the advantages of expanded carrier screening are many and include guiding patients to expert care early and setting up plans for long-term care and follow-up, she noted. In addition, early identification through screening can help patients reduce or eliminate the diagnostic odyssey and connect with advocacy and community groups for support, she concluded.

The presenters had no financial conflicts to disclose.