RecruitingLeukodystrophyWhite Matter DiseaseLeukoencephalopathies

The Myelin Disorders Biorepository Project

Eligible age

All ages

Accepts

All genders

Locations

13 states

Healthy volunteers

See if you qualify for this study

Answer a few quick questions about your location and health. Takes about a minute.

Check my eligibility →

About this study

The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future.

Sponsor: Children's Hospital of Philadelphia

You may qualify if…

✓ Male or female of any age;
✓ Suspected or confirmed diagnosis of leukodystrophy or other disorder affecting the white matter of the brain based primarily on the finding of central nervous system neuroimaging consistent with this diagnosis or on an existing diagnosis of a leukodystrophy or genetic leukoencephalopathy as defined in existing classification systems, or in the presence of variant(s) of uncertain significance or genotype consistent with leukodytrophy;
✓ Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent;
✓ Willingness to provide clinical data, participate in standardized assessments, and/or provide biologic samples.
✓ Male or female of any age;
✓ Individuals with no confirmed or suspected diagnosis of leukodystrophy or other disorder affecting the white matter of the brain (including affected patients' caregivers);
✓ Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent.

You may not qualify if…

✕ Established diagnosis at the time of referral that is not consistent with a genetic disorder of the white matter, such as an acquired demyelinating condition (e.g. multiple sclerosis), or an infectious etiology, with the exception of sequelae of congenital infections such as CMV;
✕ Inability to provide consent.
✕ \- Inability to provide consent.