Health TrialsbyHealthPanel

The Myelin Disorders Biorepository Project

ConditionsLeukodystrophyWhite Matter DiseaseLeukoencephalopathies4H SyndromeAdrenoleukodystrophyAMNALDALD Gene MutationALD (Adrenoleukodystrophy)X-linked AdrenoleukodystrophyX-ALDAdrenomyeloneuropathyAicardi Goutieres SyndromeAGSAlexander DiseaseAlexanders LeukodystrophyAxDADLDCanavan DiseaseCTXCerebrotendinous XanthomatosesKrabbe DiseaseGALC DeficiencyGloboid LeukodystrophyTUBB4A-Related LeukodystrophyH-ABC - Hypomyelination, Atrophy of Basal Ganglia and CerebellumHBSLHBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg SpasticityLBSLLeukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate ElevationALSPCSF1R Gene MutationHCC - Hypomyelination and Congenital CataractMLC1Megalencephalic Leukoencephalopathy With Subcortical CystsMLDMetachromatic LeukodystrophyPMDPelizaeus-Merzbacher DiseasePLP1 Null SyndromePLP1 Gene Duplication | Blood or Tissue | MutationsPelizaeus Merzbacher Like DiseasePeroxisomal Biogenesis DisorderZellweger SyndromeRefsum DiseaseSalla DiseaseSialic Storage DiseaseSjögrenSjogren-Larsson SyndromeVan Der Knapp DiseaseVanishing White Matter DiseaseCharcot-Marie-ToothCMTMct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter DeficiencyAllan-Herndon-Dudley SyndromeCadasilCockayne SyndromeMultiple Sulfatase DeficiencyGangliosidosesGM2 GangliosidosisBPANLabrune SyndromeLCCMucopolysaccharidosesTBCK-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

This trial does not accept healthy volunteers

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 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.

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

No trial groups listed

Trial outcomes

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.

Time frame
10 years from enrollment

Secondary outcomes

1

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

Unclassified leukodystrophy patients enrolled in this study may undergo next generation sequencing approaches, including research whole exome sequencing (WES), whole genome sequencing (WGS), RNA sequencing and high throughput genomics analysis in parallel to standard clinical testing to achieve novel molecular classifications.

Time frame
10 years from enrollment
2

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

Clinical utility defined as changes in care and clinical state, included changes in medical morbidities, surgeries, pharmacologic management of complications and implementation of disease specific therapies.

Time frame
10 years from enrollment
3

Track Current Care of Leukodystrophy Patients

Includes a longitudinal collection of clinical data on diagnostic and therapeutic interventions in leukodystrophy patients and related controls.

Time frame
10 years from enrollment
4

Track Natural History of Leukodystrophy Patients

Includes longitudinal collection of clinical data on disease presentation, progression and morbidities.

Time frame
10 years from enrollment

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

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
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