Recruiting

Observational Study

Sponsor:

Children's Hospital of Philadelphia

Code:

NCT03047369

Conditions

Leukodystrophy

White Matter Disease

Leukoencephalopathies

4H Syndrome

Adrenoleukodystrophy

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Leukodystrophy

White Matter Disease

Leukoencephalopathies

4H Syndrome

Adrenoleukodystrophy

Study ID

NCT03047369

Start date

Dec 8, 2016

Status verified date

Oct, 2025

Completion date

Dec 8, 2030

Anticipated

Primary completion date

Dec 8, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

12000 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Define Novel Homogeneous Groups of Patients with Unclassified Leukodystrophy [ Time Frame: 10 years from enrollment ]

Central Contacts and Locations

Central contacts

Omar S. Sherbini, MPH

215-590-3068sherbinio@chop.edu

Locations

Children's Hospital of Los Angeles

Recruiting

Los Angeles, California, United States, 90027

Children's Hospital of Orange County

Recruiting

Orange, California, United States, 92868

Stanford University (Lucile Packard Children's Hospital)

Recruiting

Palo Alto, California, United States, 94304

University of California, Davis (UC Davis Health)

Recruiting

Sacramento, California, United States, 95817

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

Recruiting

San Diego, California, United States, 92123

UCSF Benioff Children's Hospital

Recruiting

San Francisco, California, United States, 94158

Children's National Medical Center

Recruiting

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

Emory University (Children's Healthcare of Atlanta)

Recruiting

Atlanta, Georgia, United States, 30342

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

Recruiting

Chicago, Illinois, United States, 60611

Kennedy Krieger Institute

Recruiting

Baltimore, Maryland, United States, 21205

Massachusetts General Hospital (MGH)

Recruiting

Boston, Massachusetts, United States, 02114

University of Minnesota

Recruiting

Minneapolis, Minnesota, United States, 55454

Mayo Clinic

Recruiting

Rochester, Minnesota, United States, 55905

Atrium Health Wake Forest Baptist

Recruiting

Winston-Salem, North Carolina, United States, 27157

Akron Children's Hospital

Recruiting

Akron, Ohio, United States, 44308

Nationwide Children's Hospital

Recruiting

Columbus, Ohio, United States, 43205

The Children's Hospital of Philadelphia

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Omar Sherbini, MPH

215-590-3068sherbinio@chop.edu

Principal Investigator:

Adeline Vanderver, MD

University of Pennsylvania

Recruiting

Philadelphia, Pennsylvania, United States, 19104

University of Pittsburgh Medical Center

Recruiting

Pittsburgh, Pennsylvania, United States, 15219

Baylor College of Medicine (Texas Children's Hospital)

Recruiting

Houston, Texas, United States, 77030

UT Health Houston

Recruiting

Houston, Texas, United States

University of Utah (Primary Children's Hospital)

Recruiting

Salt Lake City, Utah, United States, 84112

Seattle Children's Hospital

Recruiting

Seattle, Washington, United States, 98105

More Information

Sponsor

Children's Hospital of Philadelphia

Last update posted

Oct 23, 2025

Last verified

Oct, 2025

Keywords

  • leukodystrophy
  • white matter disease
  • leukoencephalopathy
  • myelin
  • demyelinating
  • mdbp

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Children's Hospital of Philadelphia on 2025-10-23.