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Natural History, Diagnosis, and Outcomes for Leukodystrophies
RecruitingObservational study
Who can join
All ages · All sexes
Full eligibility criteria
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.
About the study
The goals of this protocol is to diagnose, care for, and understand the clinical histories and outcomes of people with leukodystrophies.
Sponsor: University of Utah · Participants: 600 · Started: Jan 19, 2007
Contact the study team
- Josh Bonkowsky, MD, PhD · Phone: 8012133599
- Courtney Chambers · Phone: 8012133599
Official record on ClinicalTrials.gov — NCT03639285
Locations in the U.S.
| Utah | Primary Children's Hospital, Salt Lake City |
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.