Metachromatic Leukodystrophy (MLD) Natural History Study

This study gathers natural history information about your child’s metachromatic leukodystrophy (MLD) 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 or learning more about this study, please submit our referral survey and a study coordinator will contact you with additional information.

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