The Myelin Disorders Biorepository Project

NCT03047369 | Recruiting

• 3 other identifiers: 14-011236U54NS115052U01NS106845
• Study Type: observational
• Target: 12,000
• Locations: 1 country
• Sites: 23

Brief Summary

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.

Conditions

Leukodystrophy; White Matter Disease; Leukoencephalopathies; 4H Syndrome; Adrenoleukodystrophy; AMN; ALD; ALD Gene Mutation; ALD (Adrenoleukodystrophy); X-linked Adrenoleukodystrophy; X-ALD; Adrenomyeloneuropathy; Aicardi Goutieres Syndrome; AGS; Alexander Disease; Alexanders Leukodystrophy; AxD; ADLD; Canavan Disease; CTX; Cerebrotendinous Xanthomatoses; Krabbe Disease; GALC Deficiency; Globoid Leukodystrophy; TUBB4A-Related Leukodystrophy; H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum; HBSL; HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity; LBSL; Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder); Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation; ALSP; CSF1R Gene Mutation; HCC - Hypomyelination and Congenital Cataract; MLC1; Megalencephalic Leukoencephalopathy With Subcortical Cysts; MLD; Metachromatic Leukodystrophy; PMD; Pelizaeus-Merzbacher Disease; PLP1 Null Syndrome; PLP1 Gene Duplication | Blood or Tissue | Mutations; Pelizaeus Merzbacher Like Disease; Peroxisomal Biogenesis Disorder; Zellweger Syndrome; Refsum Disease; Salla Disease; Sialic Storage Disease; Sjögren; Sjogren-Larsson Syndrome; Van Der Knapp Disease; Vanishing White Matter Disease; Charcot-Marie-Tooth; CMT; Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency; Allan-Herndon-Dudley Syndrome; Cadasil; Cockayne Syndrome; Multiple Sulfatase Deficiency; Gangliosidoses; GM2 Gangliosidosis; BPAN; Labrune Syndrome; LCC; Mucopolysaccharidoses; TBCK-Related Intellectual Disability Syndrome

Keywords

leukodystrophy; white matter disease; leukoencephalopathy; myelin; demyelinating; mdbp

Outcome Measures

Primary Outcomes (1)

• Define Novel Homogeneous Groups of Patients with Unclassified Leukodystrophy

  In patients with an unclassified leukodystrophy, the study team will collect as much information as available from existing medical records including existing clinical evaluations, neuropsychological/rehabilitation evaluations, and results from blood, urine, spinal fluid, radiological, and peripheral tissue pathological tests. This data will be evaluated to create nosologic groups amongst patients with unclassified leukodystrophy. Additionally, this aim includes the collection and long-term banking of biological samples in subjects with classified and unclassified leukodystrophies to develop a biorepository. These samples will be compared to samples collected from control subjects, either collected directly from enrolled subjects or through existing banked biological samples.

  10 years from enrollment

Secondary Outcomes (6)

• Assess Validity of Next-Generation Sequencing in the Diagnosis of Leukodystrophies

  10 years from enrollment

• Assess Utility of Next-Generation Sequencing in the Diagnosis of Leukodystrophies

  10 years from enrollment

• Track Current Care of Leukodystrophy Patients

  10 years from enrollment

• Track Natural History of Leukodystrophy Patients

  10 years from enrollment

• Establish Disease Mechanisms in Leukodystrophies

  10 years from enrollment

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Affected subjects will have either a confirmed or suspected diagnosis of leukodystrophy, or a related heritable disorder affecting the white matter of the brain. Healthy controls must be individuals in whom no leukodystrophy or related disorder has been suspected or confirmed.

You may qualify if:

• 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.

You may not qualify if:

• 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.
• 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.
• \- Inability to provide consent.

Sponsors & Collaborators

• Children's Hospital of Philadelphia: lead
• National Institutes of Health (NIH): collaborator
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• National Center for Advancing Translational Sciences (NCATS): collaborator
• Biogen: collaborator
• Eli Lilly and Company: collaborator
• Myrtelle Inc.: collaborator
• Orchard Therapeutics Ltd.: collaborator
• Passage Bio, Inc.: collaborator
• Synaptix Biotherapeutics Ltd.: collaborator
• Takeda: collaborator
• Boehringer Ingelheim: collaborator
• Ionis Pharmaceuticals, Inc.: collaborator
• Sanofi Winthrop Industrie: collaborator
• Sana Biotechnology: collaborator
• Yaya Foundation for 4H Leukodystrophy: collaborator
• University of Pennsylvania: collaborator
• United MSD Foundation: collaborator
• Foundation to Fight H-ABC: collaborator
• Calliope Joy Foundation: collaborator
• Don't Forget Me Foundation: collaborator

Study Sites (23)

Children's Hospital of Los Angeles

Los Angeles, California, 90027, United States

RECRUITING

Children's Hospital of Orange County

Orange, California, 92868, United States

RECRUITING

Stanford University (Lucile Packard Children's Hospital)

Palo Alto, California, 94304, United States

RECRUITING

University of California, Davis (UC Davis Health)

Sacramento, California, 95817, United States

RECRUITING

University of California, San Diego (Rady Children's Hospital)

San Diego, California, 92123, United States

RECRUITING

UCSF Benioff Children's Hospital

San Francisco, California, 94158, United States

RECRUITING

Children's National Medical Center

Washington D.C., District of Columbia, 20010, United States

RECRUITING

Emory University (Children's Healthcare of Atlanta)

Atlanta, Georgia, 30342, United States

RECRUITING

Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, 60611, United States

RECRUITING

Kennedy Krieger Institute

Baltimore, Maryland, 21205, United States

RECRUITING

Massachusetts General Hospital (MGH)

Boston, Massachusetts, 02114, United States

RECRUITING

University of Minnesota

Minneapolis, Minnesota, 55454, United States

RECRUITING

Mayo Clinic

Rochester, Minnesota, 55905, United States

RECRUITING

Atrium Health Wake Forest Baptist

Winston-Salem, North Carolina, 27157, United States

RECRUITING

Akron Children's Hospital

Akron, Ohio, 44308, United States

RECRUITING

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

RECRUITING

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

University of Pittsburgh Medical Center

Pittsburgh, Pennsylvania, 15219, United States

RECRUITING

Baylor College of Medicine (Texas Children's Hospital)

Houston, Texas, 77030, United States

RECRUITING

UT Health Houston

Houston, Texas, United States

RECRUITING

University of Utah (Primary Children's Hospital)

Salt Lake City, Utah, 84112, United States

RECRUITING

Seattle Children's Hospital

Seattle, Washington, 98105, United States

RECRUITING

Related Publications (1)

• Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gartner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC. Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. J Inherit Metab Dis. 2020 Nov;43(6):1298-1309. doi: 10.1002/jimd.12298. Epub 2020 Aug 20.

  PMID: 32749716 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Samples may be collected from affected subjects, as well as healthy controls. Samples may include blood, skin punch biopsy, CSF, urine, etc.) collected either for research or in the context of clinical procedures.

MeSH Terms

Conditions

Leukoencephalopathies; Attention Deficit Disorder with Hyperactivity; Adrenoleukodystrophy; Aicardi-Goutieres syndrome; Alexander Disease; Alexanders leukodystrophy; Canavan Disease; Xanthomatosis, Cerebrotendinous; Leukodystrophy, Globoid Cell; Leukodystrophy, Hypomyelinating, 6; Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation; Leukodystrophy, Hypomyelinating, 5; Megalencephalic leukoencephalopathy with subcortical cysts; Leukodystrophy, Metachromatic; Pelizaeus-Merzbacher Disease; Peroxisomal Disorders; Zellweger Syndrome; Refsum Disease; Sialic Acid Storage Disease; Sjogren's Syndrome; Sjogren-Larsson Syndrome; Charcot-Marie-Tooth Disease; Allan-Herndon-Dudley syndrome; CADASIL; Cockayne Syndrome; Multiple Sulfatase Deficiency Disease; Gangliosidoses; Gangliosidoses, GM2; Leukoencephalopathy Brain Calcifications and Cysts; Mucopolysaccharidoses

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Attention Deficit and Disruptive Behavior Disorders; Neurodevelopmental Disorders; Mental Disorders; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Hereditary Central Nervous System Demyelinating Diseases; Demyelinating Diseases; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Adrenal Insufficiency; Adrenal Gland Diseases; Endocrine System Diseases; Neurodegenerative Diseases; Lipid Metabolism, Inborn Errors; Lipid Metabolism Disorders; Xanthomatosis; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lysosomal Storage Diseases; Sulfatidosis; Liver Diseases; Digestive System Diseases; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Abnormalities, Multiple; Congenital Abnormalities; Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Arthritis, Rheumatoid; Arthritis; Joint Diseases; Musculoskeletal Diseases; Rheumatic Diseases; Xerostomia; Salivary Gland Diseases; Mouth Diseases; Stomatognathic Diseases; Dry Eye Syndromes; Lacrimal Apparatus Diseases; Eye Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Autoimmune Diseases; Immune System Diseases; Ichthyosis; Skin Abnormalities; Skin Diseases, Genetic; Infant, Newborn, Diseases; Keratosis; Skin Diseases; Cerebral Infarction; Brain Infarction; Brain Ischemia; Cerebrovascular Disorders; Cerebral Small Vessel Diseases; Dementia, Vascular; Cerebral Arterial Diseases; Intracranial Arterial Diseases; Stroke; Dementia; Vascular Diseases; Cardiovascular Diseases; Infarction; Ischemia; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Necrosis; Dwarfism; Bone Diseases, Developmental; Bone Diseases; DNA Repair-Deficiency Disorders; Carbohydrate Metabolism, Inborn Errors; Mucinoses

Study Officials

• Adeline Vanderver, MD

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Omar S. Sherbini, MPH

CONTACT

215-590-3068; sherbinio@chop.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 10 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Program Director, Leukodystrophy Center

Study Record Dates

• First Submitted: February 1, 2017
• First Posted: February 9, 2017
• Study Start: December 8, 2016
• Primary Completion (Estimated): December 8, 2030
• Study Completion (Estimated): December 8, 2030
• Last Updated: October 23, 2025

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will share
• Time Frame: IPD may be shared at any time.
• Access Criteria: Only aggregate data will be shared publicly. Please contact a member of the central study team for information regarding the release of IPD.

Locations

US (23)