Evaluation of Outcome Metrics in Alexander Disease

Recruiting

• Conditions: Alexander Disease

• Registration Number: NCT02714764
• Lead Sponsor: Children's Hospital of Philadelphia

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.

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 Timeline

• Study Start: 2016-01-26
• Study First Submitted: 2016-02-19
• Study First Submitted QC: 2016-03-16
• Study First Posted: 2016-03-21
• Status Verified: 2024-09
• Last Update Submitted: 2025-01-08
• Last Update Posted: 2025-01-09
• Primary Completion: 2030-12
• Study Completion: 2030-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

• Diagnosed with Alexander Disease

Exclusion Criteria

• Other Leukodystrophies will not be enrolled

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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

Name	Time	Method
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.

Trial Locations

Locations (1)

Children's Hospital of Philadelphia; 🇺🇸 Philadelphia, Pennsylvania, United States