Understanding and improving care for leukodystrophies
Natural History, Diagnosis, and Outcomes for Leukodystrophies
University of Utah · NCT03639285
This study is trying to better understand and improve care for people with leukodystrophies by looking at their medical histories and outcomes.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 600 (estimated) |
| Sex | All |
| Sponsor | University of Utah (other) |
| Locations | 1 site (Salt Lake City, Utah) |
| Trial ID | NCT03639285 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals diagnosed with an inherited leukodystrophy who can travel to the clinic for evaluation.
Not a fit: Patients with non-genetic causes of their condition or those unable to be evaluated at the study locations may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better diagnosis and treatment options for patients with leukodystrophies, ultimately improving their health outcomes.
How similar studies have performed: While similar studies have been conducted, this specific approach focusing on comprehensive care and outcomes for leukodystrophies is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Salt Lake City, Utah
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Leukodystrophy