The goals of this protocol is to diagnose, care for, and understand the clinical histories and outcomes of people with leukodystrophies.
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
600
Primary Children's Hospital
Salt Lake City, Utah, United States
RECRUITINGMorbidity
Determine rates of morbidity
Time frame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Hospitalizations
Number of hospitalizations
Time frame: 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
Time frame: 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
Time frame: 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
Time frame: 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)
Time frame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Respiratory complications
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Evaluate respiratory complications defined by the need for supplemental oxygen
Time frame: 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
Time frame: 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
Time frame: 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
Time frame: 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
Time frame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year