Evaluation of Outcome Metrics in Alexander Disease

Evaluation of Outcome Metrics in Alexander Disease


Lead sponsor: Children's Hospital of Philadelphia

Collaborator: Ionis Pharmaceuticals, Inc.
University of Wisconsin, Madison

Source 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. 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, 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.

Overall Status Active, not recruiting
Start Date January 26, 2016
Completion Date December 2026
Primary Completion Date December 2026
Study Type Observational
Primary Outcome
Measure Time Frame
Change in Gross Motor Function Over Time Up to 10 years
Secondary Outcome
Measure Time Frame
Change in the Bruininks-Oseretsky Test of Motor Proficiency Over Time Up to 10 years
Enrollment 100

Sampling method: Non-Probability Sample


Inclusion Criteria:

- Diagnosed with Alexander Disease

Exclusion Criteria:

- Other Leukodystrophies will not be enrolled

Gender: All

Minimum age: N/A

Maximum age: N/A

Healthy volunteers: No

Overall Official
Last Name Role Affiliation
Amy Waldman, MD Principal Investigator Children's Hospital of Philadelphia
facility Children's Hospital of Philadelphia
Location Countries

United States

Verification Date

April 2020

Responsible Party

Responsible party type: Sponsor

Has Expanded Access No
Condition Browse
Acronym AxD Outcomes
Patient Data No
Study Design Info

Observational model: Case-Only

Time perspective: Prospective

Source: ClinicalTrials.gov