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
2293 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
The goals of this protocol is to diagnose, care for, and understand the clinical histories and outcomes of people with leukodystrophies.
CONDITIONS
Official Title
Natural History, Diagnosis, and Outcomes for Leukodystrophies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Evidence by clinical exam, radiological findings, and/or testing, of an inherited leukodystrophy.
- 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 their condition.
- Known white matter disease or lesions related to birth or 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 erythematosis), 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
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
CONTACT
C
Courtney Chambers
CONTACT
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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