Recruiting

Observational Study

Sponsor:

Children's Hospital of Philadelphia

Code:

NCT02714764

Conditions

Alexander Disease

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Alexander Disease

Study ID

NCT02714764

Start date

Jan 26, 2016

Status verified date

Jan, 2026

Completion date

Dec, 2030

Anticipated

Primary completion date

Dec, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Diagnosed with Alexander Disease

Exclusion Criteria:

  • Other Leukodystrophies will not be enrolled

Study Design

Enrollment

200 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Change in Gross Motor Function Over Time [ Time Frame: Up to 10 years ]

Central Contacts and Locations

Central contacts

Amy Waldman, MD

215-590-1719

Geraldine Liu, MA

267-425-2063liug@chop.edu

Locations

Children's Hospital of Philadelphia

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Geraldine Liu, MA

267-425-2063liug@chop.edu

Principal Investigator:

Amy T Waldman, MD, MSCE

More Information

Sponsor

Children's Hospital of Philadelphia

Last update posted

Jan 15, 2026

Last verified

Jan, 2026

Keywords

  • Alexander Disease

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Children's Hospital of Philadelphia on 2026-01-15.