Actively Recruiting
Natural History, Diagnosis, and Outcomes for Leukodystrophies
Led by University of Utah · Updated on 2026-01-13
600
Participants Needed
1
Research Sites
887 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying leukodystrophies, inherited disorders affecting the brain's white matter, which impact about 1 in 7,500 children and have a high mortality rate over 30%. These conditions often cause serious complications like epilepsy, developmental decline, and intellectual disabilities. The study aims to improve diagnosis, care, and understanding of patient outcomes by collecting clinical histories and monitoring disease progression. This observational study is conducted through the Western Leukodystrophy Project at the University of Utah and Primary Children's Hospital, specialized centers for leukodystrophy care. Participants receive diagnosis support, treatment suggestions, and care guideline implementation. The study tracks patient health and disease evolution over time without testing new treatments. Participants are followed for up to 20 years, with yearly check-ins to monitor complications such as spasticity, respiratory and bulbar issues, hypotonia, cerebellar and language problems, and hospitalizations. Brain MRIs are done at enrollment and repeated approximately every five years. Clinical and diagnostic testing occurs at baseline and every three years. The study measures morbidity as the primary outcome, helping researchers understand long-term effects and responses to interventions like bone marrow transplant.
CONDITIONS
Brief Title
Natural History, Diagnosis, and Outcomes for Leukodystrophies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Evidence of an inherited leukodystrophy by clinical exam, radiological findings, or testing
- Ability to travel to the leukodystrophy clinic at Primary Children's Hospital, Salt Lake City, Utah
- Ability to tolerate a general physical exam and a neurological exam
You will not qualify if you...
- Unable to be evaluated at the University of Utah Hospital or Primary Children's Hospital
- Refusal to sign the study consent form
- Evidence or finding of another non-genetic cause of the condition
- Known white matter disease or lesions caused by birth injury, prenatal injury, multiple sclerosis, trauma, infection, immunization, post-infectious effects (e.g., ADEM), metabolic disturbances (e.g., central pontine myelinolysis), neoplasms, primary rheumatologic diseases (e.g., systemic lupus erythematosus), stroke, hypoxic-ischemic injury, drug or toxin effects, seizures, or endocrine disturbances
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - At presentation
Participants undergo testing at presentation to assist with diagnosis of leukodystrophies.
1 visit (in-person)
Duration - Up to 20 years
Participants are followed for up to 20 years with regular checks to monitor morbidity, complications, and outcomes.
Annual visits on average, with MRI every 5 years and re-testing every 3 years
Trial Site Locations
Total: 1 location
1
Primary Children's Hospital
Salt Lake City, Utah, United States, 84113
Actively Recruiting
Research Team
J
Josh Bonkowsky, MD, PhD
C
Courtney Chambers
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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