Leukodystrophy Research

This study gathers natural history information about your child’s Aicardi-Goutières syndrome disease progression. A visit to CHOP is not required.

This study is focused on understanding the progression of Alexander disease (AxD) by gathering natural history information through clinical outcome assessments.

This study gathers natural history information about your child’s H-ABC disease progression. A visit to CHOP is not required.

The primary objective of this study is to evaluate the safety and efficacy of an investigational drug known as SHP611 in individuals with a confirmed diagnosis late infantile metachromatic leukodystrophy (MLD).

Individuals with a confirmed diagnosis of Aicardi-Goutières syndrome (AGS) may qualify to participate in a Phase II clinical trial investigating the safety and efficacy of a Janus kinase (JAK) inhibitor known as baricitinib.

Individuals with a suspected diagnosis of leukodystrophy may be eligible to participate in a research study investigating the efficacy of whole genome sequencing as a first-line diagnostic tool.

This study gathers natural history information about the disease progression of metachromatic leukodystrophy (MLD) through collection of medical records and blood samples. A visit to CHOP is not required and the study is open to participants worldwide.

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. A visit to CHOP is not required.

The Myelin Disorders Biorepository Project (MDBP) collects and analyzes clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future scientific research.

This study gathers natural history information about the progression of Pelizaeus Merzbacher disease (PMD) by collecting medical records and biological samples. A visit to CHOP is not required.