Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC) Natural History Study

This study gathers natural history information about your child’s hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) disease progression through collection of medical records, a research blood sample and electronic surveys. The study may also involve occasional functional evaluations, including physical and occupational therapy, which can be performed locally and will be paid for by the research team. Participants do not need to visit Children’s Hospital of Philadelphia (CHOP), and the study is open to individuals worldwide.

If you are interested in participating in this natural history study on H-ABC, please submit our referral survey and a study coordinator will contact you with additional information. We also invite you to visit our patient advocacy partners at the Foundation to Fight H-ABC, who are generously supporting this research study.

More leukodystrophy natural history studies

Our experts in the Leukodystrophy Center are currently working on a number of natural history studies for specific leukodystrophies. See a full list of actively enrolling studies.