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Collecting data and samples from patients with leukodystrophy

The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network

Observational Children's Hospital of Philadelphia · NCT03047369

This study is collecting health information and samples from people with leukodystrophy to help find new causes and better treatments for the condition.

Quick facts

Study typeObservational
Enrollment12000 (estimated)
SexAll
SponsorChildren's Hospital of Philadelphia Academic / other
Locations23 sites (Los Angeles, California and 22 other locations)
Trial IDNCT03047369 on ClinicalTrials.gov

What this trial studies

The Myelin Disorders Biorepository Project aims to gather and analyze clinical data and biological samples from patients diagnosed with leukodystrophy and related disorders. This extensive biorepository, one of the largest of its kind, has enrolled nearly 2,000 individuals over the past decade. Researchers will utilize these resources to identify new genetic causes of leukodystrophies, develop biomarkers for future clinical trials, and enhance the understanding of the natural history of these conditions. The ultimate goal is to improve diagnostic tools and treatment options for affected patients.

Who should consider this trial

Good fit: Ideal candidates include individuals of any age with a suspected or confirmed diagnosis of leukodystrophy or related white matter disorders.

Not a fit: Patients with established diagnoses that are not genetic disorders of the white matter, such as multiple sclerosis, may not benefit from this study.

Why it matters

Potential benefit: If successful, this project could lead to better diagnostic methods and treatment strategies for patients with leukodystrophy.

How similar studies have performed: Other studies have shown promise in utilizing biorepositories for genetic disorders, indicating potential success for this approach.

Eligibility criteria

Show full inclusion / exclusion 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, 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 this trial is running

Los Angeles, California and 22 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions LeukodystrophyWhite Matter DiseaseLeukoencephalopathies4H SyndromeAdrenoleukodystrophyAMNALDALD Gene Mutation
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.