Recruiting

Observational Study

Sponsor:

University of Utah

Code:

NCT03639285

Conditions

Leukodystrophy

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

The goals of this protocol is to diagnose, care for, and understand the clinical histories and outcomes of people with leukodystrophies.

Conditions

Leukodystrophy

Study ID

NCT03639285

Start date

Jan 19, 2007

Status verified date

Jan, 2026

Completion date

Dec 31, 2050

Anticipated

Primary completion date

Dec 31, 2033

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

600 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Morbidity [ Time Frame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year ]

Central Contacts and Locations

Central contacts

Josh Bonkowsky, MD, PhD

8012133599joshua.bonkowsky@hsc.utah.edu

Courtney Chambers

8012133599

Locations

Primary Children's Hospital

Recruiting

Salt Lake City, Utah, United States, 84113

Contacts

Josh Bonkowsky, MD, PhD

8012133599joshua.bonkowsky@hsc.utah.edu

More Information

Sponsor

University of Utah

Last update posted

Jan 13, 2026

Last verified

Jan, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by University of Utah on 2026-01-13.