The Myelin Disorders Biorepository Project
Recruiting · NCT03047369 · Observational (researchers observe without assigning treatment) · Lead sponsor: Children's Hospital of Philadelphia
View the official record on ClinicalTrials.gov →What this trial is about
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.
Who can take part
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.
Where it is running
23 locations listed across 13 US states.
- Children's Hospital of Los Angeles - Los Angeles, California, United States
- Children's Hospital of Orange County - Orange, California, United States
- Stanford University (Lucile Packard Children's Hospital) - Palo Alto, California, United States
- University of California, Davis (UC Davis Health) - Sacramento, California, United States
- University of California, San Diego (Rady Children's Hospital) - San Diego, California, United States
- UCSF Benioff Children's Hospital - San Francisco, California, United States
- Children's National Medical Center - Washington D.C., District of Columbia, United States
- Emory University (Children's Healthcare of Atlanta) - Atlanta, Georgia, United States
- Ann & Robert H. Lurie Children's Hospital of Chicago - Chicago, Illinois, United States
- Kennedy Krieger Institute - Baltimore, Maryland, United States
- Massachusetts General Hospital (MGH) - Boston, Massachusetts, United States
- University of Minnesota - Minneapolis, Minnesota, United States
- Mayo Clinic - Rochester, Minnesota, United States
- Atrium Health Wake Forest Baptist - Winston-Salem, North Carolina, United States
- Akron Children's Hospital - Akron, Ohio, United States
- Nationwide Children's Hospital - Columbus, Ohio, United States
- The Children's Hospital of Philadelphia - Philadelphia, Pennsylvania, United States
- University of Pennsylvania - Philadelphia, Pennsylvania, United States
- University of Pittsburgh Medical Center - Pittsburgh, Pennsylvania, United States
- Baylor College of Medicine (Texas Children's Hospital) - Houston, Texas, United States
- UT Health Houston - Houston, Texas, United States
- University of Utah (Primary Children's Hospital) - Salt Lake City, Utah, United States
- Seattle Children's Hospital - Seattle, Washington, United States