Current Research Studies

Angelman Syndrome Cerebrospinal Fluid Study

Angelman Syndrome Cerebrospinal Fluid Study

The AS CSF Study sponsored by Biogen is designed to help learn more about AS and find potential biomarkers for use in AS clinical trials in the future. Biomarkers are substances, for example proteins, occurring in the body that can change as a result of disease or treatments and can be found in your blood, spinal fluid, and tissue. The AS CSF Study aims to find potential biomarkers that can be measured in the cerebrospinal fluid (CSF), which is the fluid surrounding the brain and spinal cord. Measurement of such biomarkers in AS patients may help guide future disease modifying drug development. Participants in this study will not receive an investigational drug.
Watch a video explaining the study. 



To take part, candidates must meet the following criteria (other criteria may also apply):

  • Genetically confirmed diagnosis of AS or dup15q syndrome
  • Up to 50 years old
  • Are planning to have a procedure that will involve the use of general anesthesia or conscious sedation at the study location

More Information or to Enroll


Contact study the coordinator at the site you would visit:

Rush University Medical Center
Barb Leane | (312) 942-9645

Vanderbilt University Medical Center 
Judy Jenkins RN, MSN, CCRP | (615) 936-0171

Rady Children’s Hospital San Diego
Alan Guevara  | (858) 966-1700 EXT 1543

Boston Children’s Hospital
Kimberly Parkin | (617) 919-6897

UNC School of Medicine
Hannah Riehl | (919) 962-8462

The Angelman Syndrome Foundation does not endorse any clinical trial or study, but provides information to the AS community for its own consideration.