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Massive leukodystrophy biobank aims to unlock disease secrets

NCT ID NCT03047369

Knowledge-focused Sponsor: Children's Hospital of Philadelphia Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trials, and better understand how these diseases progress. The goal is to improve diagnosis and pave the way for new treatments, though no direct treatment is offered to participants.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 12,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Dec 2016

Expected to finish

Dec 2030

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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, with the exception of sequelae of congenital infections such as CMV; * Inability to provide consent. Inclusion Criteria (Healthy Controls) * 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 Criteria (Healthy Controls) \- Inability to provide consent.

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Conditions

The condition(s) this trial relates to.

adrenoleukodystrophy adrenomyeloneuropathy adult Refsum disease adult-onset autosomal dominant demyelinating leukodystrophy Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome 1 Alexander disease Alexanders leukodystrophy Allan-Herndon-Dudley syndrome attention deficit hyperactivity disorder, inattentive type Canavan disease cerebral arteriopathy with subcortical infarcts and leukoencephalopathy cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 cerebrotendinous xanthomatosis Charcot-Marie-Tooth disease Cockayne syndrome free sialic acid storage disease Gangliosidoses gangliosidosis GM2 gangliosidosis hypomyelinating leukodystrophy 5 hypomyelinating leukodystrophy 6 hypomyelination with brain stem and spinal cord involvement and leg spasticity Krabbe disease leukodystrophy leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Leukoencephalopathies leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome leukoencephalopathy with calcifications and cysts leukoencephalopathy with vanishing white matter leukoencephalopathy, diffuse hereditary, with spheroids 1 megalencephalic leukoencephalopathy with subcortical cysts megalencephalic leukoencephalopathy with subcortical cysts 1 metachromatic leukodystrophy mucopolysaccharidosis mucosulfatidosis neurodegeneration with brain iron accumulation 5 null syndrome Pelizaeus-Merzbacher spectrum disorder Pelizaeus-Merzbacher-like disease Peroxisomal Disorders peroxisome biogenesis disorder Salla disease Sialic Acid Storage Disease Sjogren syndrome Sjogren-Larsson syndrome TUBB4A-related neurologic disorder Zellweger spectrum disorders

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

4H syndrome ADLD Adrenoleukodystrophy Adrenomyeloneuropathy AGS Aicardi goutieres syndrome ALD Ald (adrenoleukodystrophy) Ald gene mutation Alexander disease Alexanders leukodystrophy Allan-herndon-dudley syndrome ALSP AMN AXD BPAN Cadasil Canavan disease Cerebrotendinous xanthomatoses Charcot-Marie-Tooth CMT Cockayne syndrome CSF1R gene mutation Galc deficiency Gangliosidoses Globoid leukodystrophy GM2 gangliosidosis H-abc - hypomyelination, atrophy of basal ganglia and cerebellum HBSL HBSL - hypomyelination, brain stem, spinal cord, leg spasticity HCC - hypomyelination and congenital cataract Krabbe disease Labrune syndrome LBSL LCC Leukodystrophy Leukoencephalopathies Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency Megalencephalic leukoencephalopathy with subcortical cysts Metachromatic leukodystrophy MLC1 MLD Mucopolysaccharidoses Multiple sulfatase deficiency Pelizaeus Merzbacher like disease Pelizaeus-Merzbacher disease Peroxisomal biogenesis disorder PLP1 gene duplication | blood or tissue | mutations PLP1 null syndrome PMD Refsum disease Salla disease Sialic storage disease Sjogren-larsson syndrome Sjögren TBCK-related intellectual disability syndrome TUBB4A-related leukodystrophy Van der knapp disease Vanishing white matter disease White matter disease X-ald X-linked adrenoleukodystrophy Zellweger syndrome Β-CTX

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    23 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Akron Children's Hospital

    RECRUITING

    Akron, Ohio, 44308, United States

  • Ann & Robert H. Lurie Children's Hospital of Chicago

    RECRUITING

    Chicago, Illinois, 60611, United States

  • Atrium Health Wake Forest Baptist

    RECRUITING

    Winston-Salem, North Carolina, 27157, United States

  • Baylor College of Medicine (Texas Children's Hospital)

    RECRUITING

    Houston, Texas, 77030, United States

  • Children's Hospital of Los Angeles

    RECRUITING

    Los Angeles, California, 90027, United States

  • Children's Hospital of Orange County

    RECRUITING

    Orange, California, 92868, United States

  • Children's National Medical Center

    RECRUITING

    Washington D.C., District of Columbia, 20010, United States

  • Emory University (Children's Healthcare of Atlanta)

    RECRUITING

    Atlanta, Georgia, 30342, United States

  • Kennedy Krieger Institute

    RECRUITING

    Baltimore, Maryland, 21205, United States

  • Massachusetts General Hospital (MGH)

    RECRUITING

    Boston, Massachusetts, 02114, United States

  • Mayo Clinic

    RECRUITING

    Rochester, Minnesota, 55905, United States

  • Nationwide Children's Hospital

    RECRUITING

    Columbus, Ohio, 43205, United States

  • Seattle Children's Hospital

    RECRUITING

    Seattle, Washington, 98105, United States

  • Stanford University (Lucile Packard Children's Hospital)

    RECRUITING

    Palo Alto, California, 94304, United States

  • The Children's Hospital of Philadelphia

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

  • UCSF Benioff Children's Hospital

    RECRUITING

    San Francisco, California, 94158, United States

  • UT Health Houston

    RECRUITING

    Houston, Texas, United States

  • University of California, Davis (UC Davis Health)

    RECRUITING

    Sacramento, California, 95817, United States

  • University of California, San Diego (Rady Children's Hospital)

    RECRUITING

    San Diego, California, 92123, United States

  • University of Minnesota

    RECRUITING

    Minneapolis, Minnesota, 55454, United States

  • University of Pennsylvania

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

  • University of Pittsburgh Medical Center

    RECRUITING

    Pittsburgh, Pennsylvania, 15219, United States

  • University of Utah (Primary Children's Hospital)

    RECRUITING

    Salt Lake City, Utah, 84112, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.