Natural History, Diagnosis, and Outcomes for Leukodystrophies

NCT03639285 | Recruiting

• 1 other identifier: 00019596
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

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

Outcome Measures

Primary Outcomes (1)

• Morbidity

  Determine rates of morbidity

  Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year

Secondary Outcomes (10)

• Hospitalizations

  Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year

• MRI of the brain

  Participants will be followed for the duration of the study (up to 20 years), with an MRI performed at presentation and then repeated on average once every 5 years

• Diagnosis

  Participants will be tested at presentation, and then re-tested for the duration of the study (up to 20 years), with re-testing on average of once per three years

• Response to bone marrow transplant

  Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year

• Spasticity complications

  Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Any person with an apparent inherited disease of white matter (except as excluded by the exclusion criteria).

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Utah: lead

Study Sites (1)

Primary Children's Hospital

Salt Lake City, Utah, 84113, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Patients have the option to have a DNA sample or cell line sample biobanked.

Central Study Contacts

Josh Bonkowsky, MD, PhD

CONTACT

8012133599; joshua.bonkowsky@hsc.utah.edu

Courtney Chambers

CONTACT

8012133599

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 20 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor, Principal Investigator

Study Record Dates

• First Submitted: July 28, 2018
• First Posted: August 21, 2018
• Study Start: January 19, 2007
• Primary Completion (Estimated): December 31, 2033
• Study Completion (Estimated): December 31, 2050
• Last Updated: January 13, 2026

Record last verified: 2026-01

Locations

US (1)