Clinical trial NCT03639285: Natural History, Diagnosis, and Outcomes for Leukodystrophies
Official title: Natural History, Diagnosis, and Outcomes for Leukodystrophies
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Leukodystrophy
Lead sponsor: University of Utah
Sponsor class: OTHER
First posted: 2018-08-21
Enrollment: 600
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Any person with an apparent inherited disease of white matter (except as excluded by the exclusion criteria).

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..

Eligibility criteria: 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.

Primary outcomes:
measure: Morbidity
timeFrame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Secondary outcomes:
measure: Hospitalizations
timeFrame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
measure: MRI of the brain
timeFrame: 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
measure: Diagnosis
timeFrame: 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
measure: Response to bone marrow transplant
timeFrame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
measure: Spasticity complications
timeFrame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
measure: Respiratory complications
timeFrame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
measure: Hypotonia complications
timeFrame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
measure: Bulbar complications
timeFrame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
measure: Cerebellar complications
timeFrame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
measure: Language complications
timeFrame: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Other outcomes:
Locations:
city: Salt Lake City
country: United States
facility: Primary Children's Hospital
state: Utah
Study officials:
References: