Leukodystrophy Center Research
Our experts are engaged in a number of studies focused on the diagnosis, characterization and treatment of individual leukodystrophies. These research efforts include both clinical trials and natural history studies, which follow a group of people over time and collect specific health information in order to understand how the disease develops and how to treat it.
Explore the topics below to find more details about disease-specific studies that are currently enrolling participants and to learn about our other collaborative research initiatives. Check back often, as we will be adding additional studies in the future.
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This study is focused on understanding the progression of Alexander disease (AxD) by gathering natural history information through a telephone questionnaire.
Our experts work hand-in-hand with the Global Leukodystrophy Initiative, establishing collaborative research partnerships to foster breakthroughs.
This study gathers natural history information about your child’s H-ABC disease progression. A visit to CHOP is not required.
Individuals with a confirmed diagnosis of Aicardi-Goutières syndrome (AGS) may be eligible for a compassionate use study of baricitinib, a JAK 1/2-inhibitor.
If your child has had an MRI in the past two months demonstrating white matter abnormalities, but no diagnosis, they may be eligible for the LeukoSEQ study.
This study gathers natural history information about your child’s metachromatic leukodystrophy (MLD) disease progression. A visit to CHOP is not required.
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.
The Myelin Disorders Biorepository Project (MDBP) collects and analyzes data from leukodystrophy patients worldwide to support ongoing and future scientific research.