The Myelin Disorders Biorepository Project (MDBP) is a research study that collects medical information and biological samples, like blood or tissue, from people with leukodystrophy. Leukodystrophy is a condition that affects the white matter in the brain, which helps send signals in the body. About 1 in every 7,000 babies is born with this condition. The project aims to find out more about these disorders, improve diagnoses, and discover better treatments.
Leukodystrophies can be hard to diagnose—conventional tests have only diagnosed about 46% of cases. Newer tests, like whole exome sequencing which looks at genes, have improved this to 70%. However, 30% of cases remain undiagnosed. This study hopes to identify new groups of patients, understand the biology behind these disorders, and improve care.
- Participation: Open to all ages with suspected leukodystrophy; healthy controls also needed.
- Commitment: Provide medical information and samples.
- Benefits: Contribute to research that may improve future diagnosis and treatment.