Massive leukodystrophy biobank aims to unlock disease secrets

NCT ID NCT03047369

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.

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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

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

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