Natural History, Diagnosis, and Outcomes for Leukodystrophies

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

Detailed Description
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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 Title
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Natural History, Diagnosis, and Outcomes for Leukodystrophies

Conditions
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Leukodystrophy

Participation Criteria
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Eligibility Criteria
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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.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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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 |