Multiple Sulfatase Deficiency (MSD) Research

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 the 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.

Please note that participants are not required 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, 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.