Understanding and improving care for leukodystrophies

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

This observational study aims to diagnose, care for, and analyze the clinical histories and outcomes of individuals with leukodystrophies, a group of inherited disorders affecting the brain's white matter. Conducted by the Western Leukodystrophy Project at the University of Utah and Primary Children's Hospital, the study seeks to provide specialized resources and treatment options for affected patients. By gathering data on clinical presentations and outcomes, the study hopes to enhance understanding and improve care guidelines for this complex condition.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* evidence by clinical exam, radiological findings, and/or testing, of an inherited leukodystrophy.
* be able to travel to the leukodystrophy clinic (at Primary Children's Hospital, Salt Lake City, Utah);
* be able to tolerate a general physical exam, and a neurological exam.

Exclusion Criteria:

* unable to be evaluated at the University of Utah Hospital or Primary Children's Hospital;
* refusal to sign study consent form;
* evidence or finding of another non-genetic cause of their condition;
* Persons with known white matter disease or lesions related to: birth injury or prenatal injury, multiple sclerosis, trauma, infection, immunization, or post-infectious effects (e.g. ADEM- acute disseminated encephalomyelitis), metabolic disturbance (e.g. Central pontine myelinolysis), neoplasms, primary rheumatologic diseases (e.g. Systemic lupus erythematosis), stroke, hypoxic-ischemic injury, drug or toxin effect, seizures, or endocrine disturbance.

Where it's running

• Primary Children's Hospital
  Salt Lake City, Utah, United States Recruiting

Study contacts

• Study coordinator: Josh Bonkowsky, MD, PhD
• Email: joshua.bonkowsky@hsc.utah.edu
• Phone: 8012133599

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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.