Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
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..
Not provided
Not provided
Not provided
Not provided
Not provided
| 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 |
| 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 |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Not provided
Any person with an apparent inherited disease of white matter (except as excluded by the exclusion criteria).
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Josh Bonkowsky, MD, PhD | Contact | 8012133599 | joshua.bonkowsky@hsc.utah.edu | |
| Courtney Chambers | Contact | 8012133599 |
Not provided
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Primary Children's Hospital | Recruiting | Salt Lake City | Utah | 84113 | United States |
Not provided
Not provided
Not provided
Not provided
Patients have the option to have a DNA sample or cell line sample biobanked.
| 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 |