Recruiting

Natural History, Diagnosis, and Outcomes for Leukodystrophies

What is being collected

Data Collection

DNA Samples

Who is being recruted

+7 Eligibility Criteria

See all eligibility criteria

How is the trial designed

Cohort

Tracking disease incidence in order to identify risk factors and understand disease progression over time.

Observational

Study Start: January 2007

See protocol details

Summary

Principal SponsorUniversity of Utah

Study ContactJosh Bonkowsky, MD, PhDMore contacts

Last updated: January 28, 2026

Sourced from a government-validated database.Claim as a partner

Study start date: January 19, 2007

Actual date on which the first participant was enrolled.

Inherited leukodystrophies affect close to 1 in 7500 children with mortality greater than 30%. Affected patients face additional serious medical complications including epilepsy, developmental regression, and intellectual disabilities. Diagnosis is difficult and requires the assistance of a specialist. Finally, identifying treatments and improving outcomes is complex. The Western Leukodystrophy Project, which is part of the University of Utah and of Primary Children's Hospital, and which is a certified Leukodystrophy Care Network Center, provides a specialized resource for patients with leukodystrophies. This clinical study assists with diagnosis of leukodystrophies; suggesting treatment options and implementing care guidelines, and improving outcomes for all patients by understanding the clinical histories and outcomes of affected patients..

Official TitleNatural History, Diagnosis, and Outcomes for Leukodystrophies

NCT03639285

Principal SponsorUniversity of Utah

Study ContactJosh Bonkowsky, MD, PhDMore contacts

Last updated: January 28, 2026

Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.

Design Details

600 patients to be enrolled

Total number of participants that the clinical trial aims to recruit.

Cohort

These studies follow a group of individuals with common characteristics (such as a condition or birth year) over a specific period to study health outcomes or exposures.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.

Criteria

Any sex

Biological sex of participants that are eligible to enroll.

Healthy volunteers not allowed

If individuals who are healthy and do not have the condition being studied can participate.

Criteria

3 inclusion criteria required to participate

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.

4 exclusion criteria prevent from participating

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 Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.

Study Objectives

Primary Objectives

Secondary Objectives

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.

This study has 1 location

Recruiting

Primary Children's Hospital

Salt Lake City, United StatesOpen Primary Children's Hospital in Google Maps

Recruiting

One Study Center