Natural History, Diagnosis, and Outcomes for Leukodystrophies
ConditionLeukodystrophy
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorUniversity of Utah
About this trial
The goals of this protocol is to diagnose, care for, and understand the clinical histories and outcomes of people with leukodystrophies.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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.
Disqualifiers
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.
Trial population
Any person with an apparent inherited disease of white matter (except as excluded by the exclusion criteria).
Trial design
Design model
Cohort
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
Morbidity
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 yearSecondary outcomes
1
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 year2
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 years3
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 years4
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 yearSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov