Hemophilia A, pregnancy, and inhibitors – where we’ve been and where we are going

Speakers: Jill Johnsen, MD; Shannon Meeks, MD; Grier Page, PhD; Ken Martin; Erica McLeod

Expectant mothers who inherited the DNA change that causes hemophilia A are at high risk for bleeding in childbirth, and babies born with severe hemophilia A have a 20-30% chance of developing an inhibitor. This webinar will talk about what we know about bleeding in moms and inhibitor formation in babies, and highlight the Hemophilia A Research Program (HARP) that is running a new study of moms and babies.

Dr. Jill Johnsen is the contact MPI of the Hemophilia A Research Program (HARP) and a researcher and hematologist at the University of Washington. She is also the Principal Investigator of the My Life, Our Future Biorepository, and part of the National Heart, Lung, and Blood Institute (NHLBI) Trans-Omics for Precision Medicine Program on behalf of the hemophilia cohorts MLOF and the Hemophilia Inhibitor Previously Untreated Patient Study. She is an expert in coagulation (blood clotting), genetics, and molecular biology. A major focus of her research is using new genetic technologies to address unmet needs in bleeding disorders, with a specific interest in better understanding how bleeding uniquely impacts females. She chaired the Research & Development working group for the NBDF National Research Blueprint and co-chaired the 2018 NHLBI State of the Science Workshop on Factor VIII Inhibitors, Working Group 4, that developed a national blueprint for pregnancy/birth longitudinal cohorts describing an innovative vision for longitudinal hemophilia research for mothers and babies relevant to the HARP.

Dr. Shannon Meeks is a Professor of Pediatrics at Emory University where she holds the John and Elaine Mitchell Chair in Hemostasis. She is also the Program Director for Hemostasis and Thrombosis within the Aflac Cancer and Blood Disorders Service at Children’s Healthcare of Atlanta. She is a leading physician and scientist who studies the immune response to factor VIII (FVIII), an essential blood-clotting protein, both in laboratory experiments and during the treatment of patients with bleeding disorders. Currently, she is studying the early initiating events in the immune response to FVIII and is an expert in anti-FVIII antibody formation and characterization. She also serves as the President of the Hemostasis and Thrombosis Research Society and leads the administrative core for the National Heart, Lung, and Blood Institute Centers for the Investigation of FVIII Immunogenicity, which means being able to produce an immune response. Her clinical focus as a pediatric hematologist is on the treatment of children, teens, and young adults with bleeding disorders. She has been involved with several clinical trials, including the Hemophilia Inhibitor Previously Untreated Patient Study.

Dr. Grier Page is a Senior Fellow and Senior Director of Statistical Genetics and Artificial Intelligence in RTI International’s GenOmics, Bioinformatics, and Translational Research Center. He is an expert in multisite consortia coordination, methods development, study planning, data systems, data analysis, and the analysis of genes in diverse populations. He is also an expert in applied statistical genetics and statistical genetics methods development for multiple types of omics data, which refers to mapping and sequencing the human genome with technologies that make it possible to obtain a huge number of molecular measurements within a tissue or cell. He has published widely in this research area. His work in genetic analysis of diverse populations from National Institutes of Health-sponsored projects has focused on child health and blood disorders though the Environmental influences in Child Health Outcomes program, the Neonatal Research Network, and the Recipient Epidemiology and Donor Evaluation Study-III. He led the development of LungMap.net, ECHOPortal.org, and MetaMatchMaker.com. He holds a National Science Foundation grant to develop large language models (a type of artificial intelligence) to harmonize data and develop data portals.

Ken Martin was diagnosed with hemophilia A at age 2. When he developed an inhibitor at age 5, his parents were told he would not live past age 12. He is now 58. Ken has experienced the roller coaster of issues with work, insurance, and discrimination during his lifetime. He participated in 5 clinical trials with an annual bleed rate of 46, which improved once he found an effective treatment with the 4^th study he was a part of. Ken has been married for 31 years, has two sons with VWD, and has worked as a design engineer for the past 35 years.

Erica McLeod is a Mom of 4, including 3 young adult sons with severe hemophilia A with tolerized inhibitors and an unaffected tween daughter. Erica is a woman living with undiagnosed hemophilia.  She was recently honored to participate in the documentary “Dismissed”, which focuses on 5 women and their journeys living with hemophilia. She describes her participation as, “One of the most rewarding experiences during my hemophilia journey.” Erica is very active in the hemophilia community, involved in chapter events, advocating with local legislators, speaking to parent groups, and serving on the planning committee for NBDF’s BDC.