Metachromatic Leukodystrophy (MLD) Research

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 the 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 metachromatic leukodystrophy, 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 of Excellence are currently working on a number of natural history studies for specific leukodystrophies. A natural history study is a carefully designed research study that follows a group of people over time who have a specific medical condition or disease. Researchers working on these studies collect specific health information and biological samples in order to understand how the disease develops and how to treat it. See a full list of actively enrolling studies