Clinical Trial: Natural History and Outcome Measures in Alexander Disease

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Natural History and Outcome Measures in Alexander Disease

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. The data obtained from this study will be used for the design of future treatment trials.

Detailed Summary: Participants will be asked to complete physical examinations including physical therapy, occupational therapy, speech and language therapy, and swallowing assessments. Patients (or caretakers) may be asked to complete questionnaires as well. The study asks for participants to return at least once yearly to repeat assessments.
Sponsor: Children's Hospital of Philadelphia

Current Primary Outcome: Change in Gross Motor Function Over Time [ Time Frame: 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.


Original Primary Outcome: Same as current

Current Secondary Outcome: Change in the Bruininks-Oseretsky Test of Motor Proficiency Over Time [ Time Frame: 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.


Original Secondary Outcome: Same as current

Information By: Children's Hospital of Philadelphia

Dates:
Date Received: February 19, 2016
Date Started: January 2016
Date Completion: December 2026
Last Updated: September 19, 2016
Last Verified: September 2016