The Myelin Disorders Biorepository Project

ConditionsLeukodystrophy 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 &#X7C; Blood or Tissue &#X7C; 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

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

AgeNot listed

SponsorChildren's Hospital of Philadelphia

About this trial

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 criteria

Qualifiers

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.

Disqualifiers

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);

Trial design

Treatments tested in this trial

Not listed

Trial groups

No trial groups listed

Locations23

Select a site below to view it on the map.

California

District of Columbia

Georgia

Illinois

Maryland

Massachusetts

Minnesota

North Carolina

Ohio

Pennsylvania

Texas

Utah

Washington

Sponsors and collaborators

Children's Hospital of Philadelphia

Lead sponsor

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

Source ClinicalTrials.gov