Alexander Disease (AxD) Natural History Research

The Leukodystrophy Center at Children’s Hospital of Philadelphia 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 both of these studies will be used for the design of future clinical trials.

  • Study #1 (Outcome Metrics in Alexander Disease): This study requires a visit to the Children’s Hospital of Philadelphia. 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): This study does not require a visit to the Children’s Hospital of Philadelphia. Participants and/or their 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.

If you or your child has a confirmed diagnosis of Alexander Disease and you are interested in learning more about either of these studies, please submit our referral survey or contact our study coordinator, Geraldine Liu, at

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

More leukodystrophy natural history studies

Our experts in the Leukodystrophy Center are currently working on a number of natural history studies for specific leukodystrophies. See a full list of actively enrolling studies.