ClinicalTrials.gov record NCT03047369
The Myelin Disorders Biorepository Project
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This is a prospective registry that collects and stores clinical information and biological samples from people with confirmed or suspected leukodystrophies and from healthy controls. The project follows participants and banks samples for research over a target duration of 10 years. Researchers will use the data and samples to look for new genetic causes, evaluate genomic testing, study disease mechanisms, and describe care and disease course.
What it is studying. The study is building a central biorepository and clinical database to: define new, more uniform groups among unclassified leukodystrophy patients; evaluate next‑generation sequencing methods for diagnosis; study disease mechanisms in selected disorders; and track current care and the long-term natural history of these conditions. It also seeks to identify and contact participants who might be relevant for future research.
What the researchers hope to learn. Create a large, shared collection of clinical data and biological samples; discover novel genetic causes of leukodystrophies; evaluate the diagnostic use of next‑generation sequencing; identify biomarkers and outcome measures for future trials; and improve understanding of disease mechanisms and natural history.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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.
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Show the detailed description from the registry
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 urgent and unresolved gap in knowledge and disease characterization, as obtaining a definitive diagnosis is of paramount importance for leukodystrophy patients. Moreover, the mechanisms of disease in many leukodystrophies of known cause are very poorly understood, with little known about the best symptomatic management and, thus, limited standards of care are available for the management of these patients. The purpose of this study is to: (Aim 1) Define novel homogeneous groups of patients with unclassified leukodystrophy and work toward finding the cause of these disorders; (Aim 2) assess the validity and utility of next-generation sequencing in the diagnosis of leukodystrophies; (Aim 3) establish disease mechanisms in selected known leukodystrophies; (Aim 4) track current care and natural history of these patients to define the longitudinal course and determinants of outcomes in these disorders; (Aim 5) contact subjects for future research studies and/or clinical programs. This biorepository will use available basic science and clinical research approaches to establish novel diagnoses, biomarkers, and outcome measures for future clinical diagnostic and therapeutic approaches.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Participants give informed consent and allow the study team to collect existing medical records and perform standardized clinical assessments. They may provide biological samples for long-term banking and research (examples in the record include blood, urine, spinal fluid, or tissue), and some people with unclassified disease may undergo research genetic testing such as whole exome, whole genome, or RNA sequencing alongside standard testing. The study involves long-term data collection (target duration about 10 years) and participants may be contacted about other research studies or clinical programs.
How the study is structured. A prospective observational registry (cohort) where participants give medical information, take part in standardized assessments, and provide biological samples that are banked long-term. Some participants with unclassified disease may undergo research genomic testing. The study collects data and samples over time, with a target follow-up of 10 years.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Krabbe disease
This trial is also listed on this site under metachromatic leukodystrophy.
Important dates
- Study start
- Dec 8, 2016
- Primary completion
- Dec 8, 2030 (estimated)
- Study completion
- Dec 8, 2030 (estimated)
- Target enrollment
- 12000 participants (estimated)
- Last updated on registry
- Oct 23, 2025
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Children's Hospital of Philadelphia
- Principal investigator
- Adeline Vanderver, MD, Program Director, Leukodystrophy Center
Children's Hospital of Philadelphia - Collaborators
- National Institutes of Health (NIH)
- National Institute of Neurological Disorders and Stroke (NINDS)
- National Center for Advancing Translational Sciences (NCATS)
- Biogen
- Eli Lilly and Company
- Myrtelle Inc.
- Orchard Therapeutics Ltd.
- Passage Bio, Inc.
- Synaptix Biotherapeutics Ltd.
- Takeda
- Boehringer Ingelheim
- Ionis Pharmaceuticals, Inc.
- Sanofi Winthrop Industrie
- Sana Biotechnology
- Yaya Foundation for 4H Leukodystrophy
- University of Pennsylvania
- United MSD Foundation
- Foundation to Fight H-ABC
- Calliope Joy Foundation
- Don't Forget Me Foundation
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Omar S. Sherbini, MPH 📞 215-590-3068 ✉ sherbinio@chop.edu
Participating sites (23)
- Children's Hospital of Los AngelesRecruiting
Los Angeles, California, 90027 · United States
- Jonathan Santoro, MD
- Children's Hospital of Orange CountyRecruiting
Orange, California, 92868 · United States
- Changrui Xiao, MD
- Stanford University (Lucile Packard Children's Hospital)Recruiting
Palo Alto, California, 94304 · United States
- Keith Van Haren, MD
- University of California, Davis (UC Davis Health)Recruiting
Sacramento, California, 95817 · United States
- William Benko, MD
- University of California, San Diego (Rady Children's Hospital)Recruiting
San Diego, California, 92123 · United States
- Jennifer Yang, MD
- UCSF Benioff Children's HospitalRecruiting
San Francisco, California, 94158 · United States
- Alexander Fay, MD, PhD
- Children's National Medical CenterRecruiting
Washington D.C., District of Columbia, 20010 · United States
- Jamie Fraser, MD, PhD
- Emory University (Children's Healthcare of Atlanta)Recruiting
Atlanta, Georgia, 30342 · United States
- Stephanie Keller, MD
- Ann & Robert H. Lurie Children's Hospital of ChicagoRecruiting
Chicago, Illinois, 60611 · United States
- Jennifer P Rubin, MD
- Kennedy Krieger InstituteRecruiting
Baltimore, Maryland, 21205 · United States
- Ali Fatemi, MD, MBA
Terms used on this page · explanations by MedicalUpdates.ai
- Biorepository
- A collection of biological samples, such as blood or tissue, stored with medical information so that researchers can study them later.
- biomarkers
- Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
- natural history
- A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
- informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- legal guardian
- A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
- assent
- A child's or dependent adult's agreement to take part, given alongside the formal consent of a parent or legal representative.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- outcome measures
- Something the study measures to judge its results, such as a symptom score, a blood test or survival. Outcomes are grouped as primary, secondary and sometimes exploratory.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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