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NCT03047369 | RECRUITING | Leukodystrophy

The Myelin Disorders Biorepository Project
Sponsor:

Children's Hospital of Philadelphia

Information provided by (Responsible Party):

Adeline Vanderver, MD

Brief 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.

Condition or disease

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

adult

Canavan Disease

CTX

Cerebrotendinous Xanthomatoses

Crab 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

Detailed Description:

Genetic white matter disorders (leukodystrophies) are estimated to have an incidence of approximately 1:7000 live births. In the past, patients with white matter disease of unknown cause evaluated by the investigator achieved a diagnosis in fewer than 46% of cases after extensive conventional clinical testing. Even when a diagnosis is achieved, the diagnosis takes an average of eight years and this "odyssey" results in testing charges to patients and insurers in excess of $8,000 on average per patient, including patients who never achieve a diagnosis at all. With next generation approaches such as whole exome sequencing, the diagnostic efficacy is closer to 70%, but approximately a third of individuals do not achieve a specific etiologic diagnosis. These diagnostic challenges represent an urgent and unresolved gap in knowledge and disease characterization, as obtaining a definitive diagnosis is of paramount importance for leukodystrophy patients. Moreover, the mechanisms of disease in many leukodystrophies of known cause are very poorly understood, with little known about the best symptomatic management and, thus, limited standards of care are available for the management of these patients. The purpose of this study is to: (Aim 1) Define novel homogeneous groups of patients with unclassified leukodystrophy and work toward finding the cause of these disorders; (Aim 2) assess the validity and utility of next-generation sequencing in the diagnosis of leukodystrophies; (Aim 3) establish disease mechanisms in selected known leukodystrophies; (Aim 4) track current care and natural history of these patients to define the longitudinal course and determinants of outcomes in these disorders; (Aim 5) contact subjects for future research studies and/or clinical programs. This biorepository will use available basic science and clinical research approaches to establish novel diagnoses, biomarkers, and outcome measures for future clinical diagnostic and therapeutic approaches.

Study Type : OBSERVATIONAL
Estimated Enrollment : 12000 participants
Official Title : The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
Actual Study Start Date : 2016-12-08
Estimated Primary Completion Date : 2030-12-08
Estimated Study Completion Date : 2030-12-08

Information not available for Arms and Intervention/treatment

Ages Eligible for Study:
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers:
Criteria
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.
    • The Myelin Disorders Biorepository Project

    Location Details

    NCT03047369

    Please Choose a site

    How to Participate

    Want to participate in this study, select a site at your convenience, send yourself email to get contact details and prescreening steps.

    Locations

    RECRUITING

    United States, California

    Children's Hospital of Los Angeles

    Los Angeles, California, United States, 90027

    RECRUITING

    United States, California

    Children's Hospital of Orange County

    Orange, California, United States, 92868

    RECRUITING

    United States, California

    Stanford University (Lucile Packard Children's Hospital)

    Palo Alto, California, United States, 94304

    RECRUITING

    United States, California

    University of California, Davis (UC Davis Health)

    Sacramento, California, United States, 95817

    RECRUITING

    United States, California

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

    San Diego, California, United States, 92123

    RECRUITING

    United States, California

    UCSF Benioff Children's Hospital

    San Francisco, California, United States, 94158

    RECRUITING

    United States, District of Columbia

    Children's National Medical Center

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

    RECRUITING

    United States, Georgia

    Emory University (Children's Healthcare of Atlanta)

    Atlanta, Georgia, United States, 30342

    RECRUITING

    United States, Illinois

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

    Chicago, Illinois, United States, 60611

    RECRUITING

    United States, Maryland

    Kennedy Krieger Institute

    Baltimore, Maryland, United States, 21205

    RECRUITING

    United States, Massachusetts

    Massachusetts General Hospital (MGH)

    Boston, Massachusetts, United States, 02114

    RECRUITING

    United States, Minnesota

    University of Minnesota

    Minneapolis, Minnesota, United States, 55454

    RECRUITING

    United States, Minnesota

    Mayo Clinic

    Rochester, Minnesota, United States, 55905

    RECRUITING

    United States, North Carolina

    Atrium Health Wake Forest Baptist

    Winston-Salem, North Carolina, United States, 27157

    RECRUITING

    United States, Ohio

    Akron Children's Hospital

    Akron, Ohio, United States, 44308

    RECRUITING

    United States, Ohio

    Nationwide Children's Hospital

    Columbus, Ohio, United States, 43205

    RECRUITING

    United States, Pennsylvania

    The Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, United States, 19104

    RECRUITING

    United States, Pennsylvania

    University of Pennsylvania

    Philadelphia, Pennsylvania, United States, 19104

    RECRUITING

    United States, Pennsylvania

    University of Pittsburgh Medical Center

    Pittsburgh, Pennsylvania, United States, 15219

    RECRUITING

    United States, Texas

    Baylor College of Medicine (Texas Children's Hospital)

    Houston, Texas, United States, 77030

    RECRUITING

    United States, Texas

    UT Health Houston

    Houston, Texas, United States,

    RECRUITING

    United States, Utah

    University of Utah (Primary Children's Hospital)

    Salt Lake City, Utah, United States, 84112

    RECRUITING

    United States, Washington

    Seattle Children's Hospital

    Seattle, Washington, United States, 98105