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Recruiting NCT03047369

The Myelin Disorders Biorepository Project

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Trial Parameters

Condition Leukodystrophy
Sponsor Children's Hospital of Philadelphia
Study Type OBSERVATIONAL
Phase N/A
Enrollment 12,000
Sex ALL
Min Age N/A
Max Age N/A
Start Date 2016-12-08
Completion 2030-12-08
All 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

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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.

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, 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,

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