Understanding how Alexander Disease affects patients
Official title: Evaluation of Outcome Metrics in Alexander Disease
Run by Children's Hospital of Philadelphia · NCT02714764 · Data updated 2026-11-12
This study looks at how Alexander Disease affects everyday activities like movement, speech, and swallowing in patients to help understand the condition better and guide future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 200 (estimated) |
| Sponsor | Children's Hospital of Philadelphia Academic / other |
| Locations | 1 site (Philadelphia, Pennsylvania) |
| Status | Recruiting |
| Started | January 26, 2016 |
| Main results expected | December 2030 |
| Study ends | December 2030 |
| Registry record updated | January 15, 2026 |
| Trial ID | NCT02714764 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are individuals diagnosed with Alexander Disease.
✕Probably not a fit
Patients with other types of leukodystrophies will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to define the natural history of Alexander Disease, a neurological disorder that leads to various dysfunctions. Investigators will conduct comprehensive clinical assessments to evaluate the impact of the disease on motor skills, speech, swallowing, and overall quality of life. Participants will undergo physical, occupational, and speech therapy evaluations, and may also complete questionnaires. Additionally, specimens will be collected to analyze glial fibrillary acidic protein (GFAP) levels in cerebrospinal fluid and blood, with the goal of informing future treatment trials.
Why it matters
Potential benefit: If successful, this study could provide critical insights into the progression of Alexander Disease, aiding in the development of targeted therapies.
How similar studies have gone: While this study focuses on the natural history of Alexander Disease, similar observational studies in other leukodystrophies have provided valuable data for treatment development.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Diagnosed with Alexander Disease Exclusion Criteria: * Other Leukodystrophies will not be enrolled
Where it's running
-
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States Recruiting
Study contacts
- Principal investigator: Amy Waldman, MD — Children's Hospital of Philadelphia
- Study coordinator: Amy Waldman, MD
- Phone: 215-590-1719
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.