Leukodystrophy Center Research
Our experts in the Leukodystrophy Center at Children’s Hospital of Philadelphia (CHOP) are engaged in a number of studies focused on the diagnosis, characterization and treatment of individual leukodystrophies. Explore the topics below to learn about our research initiatives. Check back often, as we will be adding additional studies in the future.
Leukodystrophy Natural History Studies
Our leukodystrophy experts are currently working on a number of natural history studies for specific leukodystrophies. A natural history study is a carefully designed research study that collects specific health information and biological samples in order to understand how a specific medical condition or disease develops and how to treat it.
See below for a full list of actively enrolling natural history studies in the Leukodystrophy Center.
Aicardi-Goutières Syndrome (AGS) Natural History Research
This study gathers natural history information about your child’s Aicardi-Goutières syndrome disease progression. A visit to CHOP is not required.
Alexander Disease (AxD) Natural History Research
This study is focused on understanding the progression of Alexander disease (AxD) by gathering natural history information through clinical outcome assessments.
Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC) Natural History Study
This study gathers natural history information about your child’s H-ABC disease progression. A visit to CHOP is not required.
Metachromatic Leukodystrophy (MLD) Natural History Study
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.
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. A visit to CHOP is not required.
Pelizaeus Merzbacher Disease (PMD) Natural History Study
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.
Clinical Trials and Diagnostic Programs
Clinical trials are research studies designed to evaluate whether new drugs or other medical interventions are safe and effective in individuals with a specific medical diagnosis. CHOP's Leukodystrophy Center is home to a number of leukodystrophy clinical trials, as well as a diagnostic study for individuals who are suspected of having a leukodystrophy or other white matter disorder.
See below for a full list of actively enrolling clinical trials.
Janus Kinase Inhibitor (Baricitinib) for Aicardi-Goutières Syndrome
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.
Intrathecal SHP611 in Subjects with Metachromatic Leukodystrophy
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).
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool
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.
Patient Registries and Collaborative Research Programs
The Leukodystrophy Center at CHOP maintains one of the world’s largest repositories of leukodystrophy clinical data and biological samples. These materials support the program’s basic science and clinical research efforts and allow our researchers to make meaningful advances in the diagnosis and treatment of leukodystrophies. The Leukodystrophy Center also works closely with clinicians, researchers, advocacy representatives, and industry leaders around the world to launch new research projects and share scientific discoveries.
Myelin Disorders Biorepository Project (MDBP)
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.
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
CHOP is leading an initiative to establish a multi-institutional program to advance research and treatment across the leukodystrophies.
Education, Awareness, and Outreach Initiatives
The Global Leukodystrophy Initiative (GLIA), an international consortium based at Children’s Hospital of Philadelphia, works closely with clinical experts, basic science researchers, patient advocacy representatives, and industry leaders around the world to promote professional education and community awareness efforts.
Learn more about how you can become involved with these efforts, and please visit the Leukodystrophy Center Resources page to learn more about some of our partner organizations promoting leukodystrophy education, awareness, and outreach.