Leukodystrophy
Conditions
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..
Interventions
None listed
Sponsors
University of Utah
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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 |
| 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 |
| 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 |
| 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) |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
Countries
United States
Contacts
Primary ContactJosh Bonkowsky, MD, PhD
Backup ContactCourtney Chambers
Outcome results
None listed