The Myelin Disorders Biorepository Project

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

Sponsors & Collaborators

• National Institutes of Health (NIH)

  collaborator NIH

• National Institute of Neurological Disorders and Stroke (NINDS)

  collaborator NIH

• National Center for Advancing Translational Sciences (NCATS)

  collaborator NIH

• Biogen

  collaborator INDUSTRY

• Eli Lilly and Company

  collaborator INDUSTRY

• Myrtelle Inc.

  collaborator INDUSTRY

• Orchard Therapeutics Ltd.

  collaborator UNKNOWN

• Passage Bio, Inc.

  collaborator INDUSTRY

• Synaptix Biotherapeutics Ltd.

  collaborator UNKNOWN

• Takeda

  collaborator INDUSTRY

• Boehringer Ingelheim

  collaborator INDUSTRY

• Ionis Pharmaceuticals, Inc.

  collaborator INDUSTRY

• Sanofi Winthrop Industrie

  collaborator UNKNOWN

• Sana Biotechnology

  collaborator INDUSTRY

• Yaya Foundation for 4H Leukodystrophy

  collaborator UNKNOWN

• University of Pennsylvania

  collaborator OTHER

• United MSD Foundation

  collaborator UNKNOWN

• Foundation to Fight H-ABC

  collaborator UNKNOWN

• Calliope Joy Foundation

  collaborator UNKNOWN

• Don't Forget Me Foundation

  collaborator UNKNOWN

• Children's Hospital of Philadelphia

  lead OTHER

Principal Investigators

• Adeline Vanderver, MD · Children's Hospital of Philadelphia

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2016-12-08

Primary Completion

2030-12-08

Completion

2030-12-08

Countries

• United States

Study Locations