Understanding how Alexander Disease affects patients
Evaluation of Outcome Metrics in Alexander Disease
Children's Hospital of Philadelphia · NCT02714764
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 |
|---|---|
| Enrollment | 200 (estimated) |
| Sex | All |
| Sponsor | Children's Hospital of Philadelphia (other) |
| Locations | 1 site (Philadelphia, Pennsylvania) |
| Trial ID | NCT02714764 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals diagnosed with Alexander Disease.
Not a fit: Patients with other types of leukodystrophies will not benefit from this study.
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 performed: While this study focuses on the natural history of Alexander Disease, similar observational studies in other leukodystrophies have provided valuable data for treatment development.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Diagnosed with Alexander Disease Exclusion Criteria: * Other Leukodystrophies will not be enrolled
Where this trial is running
Philadelphia, Pennsylvania
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Alexander Disease