Natural History, Diagnosis, and Outcomes for Leukodystrophies

Recruiting

• Conditions: Leukodystrophy

• Registration Number: NCT03639285
• Lead Sponsor: University of Utah

Brief Summary

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

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 Timeline

• Study Start: 2007-01-19
• Study First Submitted: 2018-07-28
• Study First Submitted QC: 2018-08-16
• Study First Posted: 2018-08-21
• Status Verified: 2024-12
• Last Update Submitted: 2024-12-12
• Last Update Posted: 2024-12-17
• Primary Completion: 2033-12-31
• Study Completion: 2050-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 600

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.

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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.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Morbidity	Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year	Determine rates of morbidity

Secondary Outcome Measures

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

Trial Locations

Locations (1)

Primary Children's Hospital; 🇺🇸 Salt Lake City, Utah, United States