Collecting data and samples from patients with leukodystrophy

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

The Myelin Disorders Biorepository Project aims to gather and analyze clinical data and biological samples from patients diagnosed with leukodystrophy and related disorders. This extensive biorepository, one of the largest of its kind, has enrolled nearly 2,000 individuals over the past decade. Researchers will utilize these resources to identify new genetic causes of leukodystrophies, develop biomarkers for future clinical trials, and enhance the understanding of the natural history of these conditions. The ultimate goal is to improve diagnostic tools and treatment options for affected patients.

Why it matters

Who can join: the full rules

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.

Where it's running

• Children's Hospital of Los Angeles
  Los Angeles, California, United States Recruiting
• Children's Hospital of Orange County
  Orange, California, United States Recruiting
• Stanford University (Lucile Packard Children's Hospital)
  Palo Alto, California, United States Recruiting
• University of California, Davis (UC Davis Health)
  Sacramento, California, United States Recruiting
• University of California, San Diego (Rady Children's Hospital)
  San Diego, California, United States Recruiting
• UCSF Benioff Children's Hospital
  San Francisco, California, United States Recruiting

Study contacts

• Principal investigator: Adeline Vanderver, MD — Children's Hospital of Philadelphia
• Study coordinator: Omar S. Sherbini, MPH
• Email: sherbinio@chop.edu
• Phone: 215-590-3068

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Long-term observation of rare genetic brain disorders

  This study is tracking how rare genetic brain disorders progress over time to better understand their effects on patients.

  Recruiting University of Pittsburgh · Pittsburgh, Pennsylvania · NCT03333200

• Home exercise program for people with neurodegenerative diseases

  This study is testing a home exercise program to see if it can help people with neurodegenerative diseases improve their walking and balance.

  Recruiting Hugo W. Moser Research Institute at Kennedy Krieger, Inc. · Baltimore, Maryland · NCT05443906

• Observing the natural history of a rare brain disorder called LBSL

  This study looks at how a rare brain disorder called LBSL affects movement and thinking in patients to better understand their challenges and improve their quality of life.

  Recruiting Hugo W. Moser Research Institute at Kennedy Krieger, Inc. · Baltimore, Maryland · NCT03624374

• Registry for patients with rare diseases

  This study is creating a central registry for people with rare diseases to help connect them with researchers and improve treatments.

  Recruiting Sanford Health · Sioux Falls, South Dakota · NCT01793168

• Examining Immune Response in Certain Leukodystrophies

  This study is trying to see how the immune system reacts in people with certain types of leukodystrophies to better understand how these diseases progress.

  Recruiting at 2 sites Assistance Publique - Hôpitaux de Paris · Le Kremlin-Bicêtre and 1 other locations · NCT04925349

• Registry for understanding Adrenoleukodystrophy

  This study is collecting health information and samples from people with Adrenoleukodystrophy to better understand the disease and find ways to improve treatment.

  Recruiting Masonic Cancer Center, University of Minnesota · Minneapolis, Minnesota · NCT03789721

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.