The Myelin Disorders Biorepository Project
Sponsored by Children's Hospital of Philadelphia
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.
Genetic white matter disorders (leukodystrophies) are estimated to have an incidence of approximately 1:7000 live births. In the past, patients with white matter disease of unknown cause evaluated by the investigator achieved a diagnosis in fewer than 46% of cases after extensive conventional clinical testing. Even when a diagnosis is achieved, the diagnosis takes an average of eight years and this "odyssey" results in testing charges to patients and insurers in excess of $8,000 on average per patient, including patients who never achieve a diagnosis at all. With next generation approaches such as whole exome sequencing, the diagnostic efficacy is closer to 70%, but approximately a third of individuals do not achieve a specific etiologic diagnosis. These diagnostic challenges represent an …
Where this study is enrolling (5)
- I'm interested
Emory University (Children's Healthcare of Atlanta)
Atlanta, Georgia
- I'm interested
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois
- I'm interested
University of Pennsylvania
Philadelphia, Pennsylvania
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The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania
- I'm interested
Baylor College of Medicine (Texas Children's Hospital)
Houston, Texas
Who can participate
Inclusion criteria
- ✓(Affected Subjects):
- ✓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.
Exclusion criteria
- ✕(Affected Subjects)
- ✕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.
- ✕Inclusion Criteria (Healthy Controls)
- ✕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.
- ✕Exclusion Criteria (Healthy Controls)
- ✕\- Inability to provide consent.
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Completing a questionnaire on Clinably does not enroll you in a clinical trial or confirm your eligibility. Only the research team can determine whether you qualify to participate. These results are based on the information you provide and are intended to help you start a conversation with the research team.
Trial data sourced from ClinicalTrials.gov.