The Myelin Disorders Biorepository Project

Launched by CHILDREN'S HOSPITAL OF PHILADELPHIA · Feb 8, 2017

Keywords

ClinConnect Summary

The Myelin Disorders Biorepository Project (MDBP) is an important research study that aims to collect information and biological samples from patients with leukodystrophies, which are disorders that affect the white matter in the brain. The project has been ongoing for over ten years and has enrolled nearly 2,000 participants worldwide. By analyzing these samples and data, researchers hope to discover new genetic causes of these diseases, develop better tests to diagnose them, and ultimately improve treatment options for patients.

If you or a loved one has been diagnosed with a leukodystrophy or a related brain disorder, you might be eligible to participate in this study. All ages and genders are welcome, as long as there is a suspected or confirmed diagnosis based on brain imaging. Participants will be asked to provide clinical information and biological samples, such as blood or tissue, and will undergo standard assessments. This study not only helps advance research but also offers a chance for individuals and families to contribute to a better understanding of these complex conditions.

Gender

ALL

Eligibility criteria

• 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;
• • 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;
• • 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.