Clinical Research at CHOP

While scientists are busy in the lab, doctors like Amy Waldman are working with patients to define the clinical impact of Alexander Disease on their daily lives. "You can't determine if a new drug is working unless you know what to expect in a disorder," she says.

The Leukodystrophy Center at Children’s Hospital of Philadelphia created the Natural History Study in order to better understand the nuances of Alexander Disease and the variance of symptoms and progression among patients. CHOP currently has two ongoing research studies exploring the natural history of Alexander Disease (AxD). Individuals of any age diagnosed with Alexander disease are eligible to participate. The data obtained from these studies will be used for the design of future clinical trials.

Study #1 (Outcome Metrics in Alexander Disease)
Requires a visit to the CHOP. Participants will undergo Physical Therapy, Occupational Therapy, Speech and Language, Observational Swallow and Neurocognitive evaluations, paid for by the study. This study also includes an optional Magnetic Resonance Imaging (MRI) and Lumbar Puncture (LP) component. These assessments typically take place over 2-3 days. To help offset travel costs, participants may be eligible for a travel stipend.

Study #2 (Natural History Questionnaire)
Does not require a visit to the CHOP. Participants/Caregivers will be asked to fill out a series of questionnaires and grant permission for the study team to access medical records that pertain to diagnosis and treatment.

To learn more, please submit a referral survey or contact the study coordinator, Geraldine Liu, at LiuG@email.chop.edu.

You may also visit the official ClinicalTrials.gov listing for more information about the study.