Evaluation of Outcome Metrics in Alexander Disease
Purpose
The purpose of this study is to define the natural history of Alexander Disease, a leukodystrophy that causes neurological dysfunction. Investigators will obtain clinical outcome assessments to measure how the disease affects a patient's gross motor, fine motor, speech and language function, swallowing, and quality of life. Specimens are collected to measure glial fibrillary acidic protein (GFAP) levels in cerebrospinal fluid (CSF) and blood. The data obtained from this study will be used for the design of future treatment trials.
Condition
- Alexander Disease
Eligibility
- Eligible Ages
- All ages
- Eligible Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- Diagnosed with Alexander Disease
Exclusion Criteria
- Other Leukodystrophies will not be enrolled
Study Design
- Phase
- Study Type
- Observational
- Observational Model
- Case-Only
- Time Perspective
- Prospective
Recruiting Locations
Philadelphia, Pennsylvania 19104
More Details
- NCT ID
- NCT02714764
- Status
- Recruiting
- Sponsor
- Children's Hospital of Philadelphia
Study Contact
Amy Waldman, MD215-590-1719
Detailed Description
Participants will be asked to complete physical examinations including physical therapy, occupational therapy, speech and language therapy, neurocognitive and swallowing assessments. Patients (or caretakers) may be asked to complete questionnaires as well. Specimen collection is an optional procedure. The study asks for participants to return at least once yearly to repeat assessments.