The Myelin Disorders Biorepository Project

This project, called The Myelin Disorders Biorepository Project (MDBP), is collecting information and samples from people with leukodystrophy (a group of rare genetic diseases that affect the brain's white matter) and other white matter diseases. The goal is to help researchers better understand these conditions, find new genetic causes, and develop ways to identify these diseases earlier. By gathering this information, researchers hope to improve diagnosis and treatment options for patients in the future. You can join if you have a suspected or confirmed diagnosis of leukodystrophy or another white matter disorder, based on brain imaging or an existing diagnosis. The main goal is to identify new, similar groups of patients with undiagnosed leukodystrophy over a 10-year period.

Study design: This is an observational study aiming to enroll 12,000 participants of all ages and genders. It is not testing a specific treatment but rather collecting data and samples.
What's involved: Not specified in the trial record.
Compensation: Not stated in the trial record.
Follow-up: The primary goal will be measured 10 years from when you join the study.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

The Myelin Disorders Biorepository Project

Recruiting

Not specifiedAll AgesObservational

Children's Hospital of Philadelphia

~12,000 participants

Updated 2025-10-23 on ClinicalTrials.gov

At a glance

Recruiting sites

23 of 23 listed sites are recruiting right now

RecruitingSuspended, closed, or not yet open

What they're measuring

Define Novel Homogeneous Groups of Patients with Unclassified Leukodystrophy

Measured over 10 years from enrollment

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 &#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

Where it's being run

23 sites across 13 states

California6

Pennsylvania3

Minnesota2

Ohio2

Texas2

District of Columbia1

Georgia1

Illinois1

Study leadership

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

Who to contact

Omar S. Sherbini, MPH

[email protected]

215-590-3068

Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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.

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.

Exclusion

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.

What this trial measures

Define Novel Homogeneous Groups of Patients with Unclassified Leukodystrophy10 years from enrollment
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.

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