AxD Outcomes: Evaluation of Outcome Metrics in Alexander Disease
Study Details
Study Description
Brief Summary
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 or Disease | Intervention/Treatment | Phase |
|---|---|---|
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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.
Study Design
Outcome Measures
Primary Outcome Measures
- Change in Gross Motor Function Over Time [Up to 10 years]
Total score and dimensional scores (rolling/supine, crawling/traveling, sitting, standing, and walking/running) will be calculated at each visit. Change in total and dimensional scores over time will be assessed.
Secondary Outcome Measures
- Change in the Bruininks-Oseretsky Test of Motor Proficiency Over Time [Up to 10 years]
Composite score and scores for the 4 sub-scales will be calculated at each visit. Change in composite and subscale scores over time will be assessed.
Other Outcome Measures
- Change in Peabody Developmental Motor Scales Over Time [Up to 10 years]
Composite score and 4 sub-scales (reflexes, stationary, locomotion, object manipulation) will be calculated at each visit. Change in composite and subscale scores over time will be assessed.
- Change in Rosetti Infant-Toddler Language Scale Over Time [Up to 10 years]
Change in six sub-scales (Interaction-Attachment, Pragmatics, Gesture, Play, Language Comprehension, and Language Expression) will be assessed at each visit for age applicable patients.
- Change in Swallowing Performance Over Time [Up to 10 years]
A clinical swallow evaluation will be performed and assessed for change annually using an ordinal classification scale based on performance.
- Change in Clinical Evaluation of Language Fundamentals Over Time [Up to 10 years]
Changes in the comprehensive scores will be assessed at baseline and then annually at each visit which will be scheduled within ± 2 months around the specified time point, for up to 10 years
- Change in Peabody Picture Vocabulary Test Over Time [Up to 10 years]
Changes in comprehensive scores will be assessed at baseline and then annually at each visit which will be scheduled within ± 2 months around the specified time point, for up to 10 years
- Change in Goldman-Fristoe Test of Articulation Over Time [Up to 10 years]
Changes in standardized scores will be assessed at baseline and then annually at each visit which will be scheduled within ± 2 months around the specified time point, for up to 10 years
Eligibility Criteria
Criteria
Inclusion Criteria:
- Diagnosed with Alexander Disease
Exclusion Criteria:
- Other Leukodystrophies will not be enrolled
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Children's Hospital of Philadelphia | Philadelphia | Pennsylvania | United States | 19104 |
Sponsors and Collaborators
- Children's Hospital of Philadelphia
- Ionis Pharmaceuticals, Inc.
- University of Wisconsin, Madison
- Pennsylvania Department of Health
Investigators
- Principal Investigator: Amy Waldman, MD, Children's Hospital of Philadelphia
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 16-012649