Multiple Sulfatase Deficiency (MSD) Natural History Study
This study gathers natural history information about the disease progression of multiple sulfatase deficiency (MSD) through collection of medical records with research urine and blood samples. Participants who receive clinical care at Children’s Hospital of Philadelphia (CHOP) will be invited to participate in optional physical and occupational therapy assessments. The cost of these assessments will be covered by the research study.
Participants do not need to visit 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.