Natural History, Diagnosis, and Outcomes for Leukodystrophies

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

Study Overview

• Status: Recruiting
• Conditions: Leukodystrophy

Detailed Description

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..

• Study Type: Observational
• Enrollment (Estimated): 600

Contacts and Locations

• Study Contact: Name: Josh Bonkowsky, MD, PhD; Phone Number: 8012133599; Email: joshua.bonkowsky@hsc.utah.edu
• Study Contact Backup: Name: Courtney Chambers; Phone Number: 8012133599

Study Locations

• United States
  • Utah
    • Salt Lake City, Utah, United States, 84113
      • Recruiting
      • Primary Children's Hospital
      • Contact: Josh Bonkowsky, MD, PhD; Phone Number: 8012133599; Email: joshua.bonkowsky@hsc.utah.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Hospitalizations	Number of 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	Perform brain MRI to evaluate changes due to a leukodystrophy	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	Using sequencing to establish a genetic 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	Evaluate neurological changes due to leukodystrophy and response following a bone marrow	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Spasticity complications	Evaluate spasticity complications defined by the presence of increased tone (spasticity)	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Respiratory complications	Evaluate respiratory complications defined by the need for supplemental oxygen	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Hypotonia complications	Evaluate hypotonia complications defined by the presence of hypotonia	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Bulbar complications	Evaluate bulbar complications defined by the presence of swallowing difficulties	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Cerebellar complications	Evaluate cerebellar complications defined by the presence of ataxia or coordination problems	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Language complications	Evaluate language complications defined by language impairment below age norms	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year

Collaborators and Investigators

• Sponsor: University of Utah

Study record dates

Study Major Dates

• Study Start (Actual): January 19, 2007
• Primary Completion (Estimated): December 31, 2033
• Study Completion (Estimated): December 31, 2050

Study Registration Dates

• First Submitted: July 28, 2018
• First Submitted That Met QC Criteria: August 16, 2018
• First Posted (Actual): August 21, 2018

Study Record Updates

• Last Update Posted (Estimated): January 13, 2026
• Last Update Submitted That Met QC Criteria: January 11, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Other Study ID Numbers: 00019596

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No