Natural History Study
Natural History Study
The overall goal of the Natural History Study (NHS) is to support the Angelman syndrome (AS) community by: 1) seeking answers to questions pertaining to the clinical management and care of children and adults living with Angelman syndrome, such as the types and frequency of various medical complications (e.g., constipation, seizures, and sleep disorders), medications that have been used, behavioral challenges, and developmental trajectories; 2) providing foundational prospective longitudinal data that can be used in the design of clinical trials by industry who are developing potential therapies for Angelman syndrome by following patients over a period of many years to best understand the trajectory of change naturally, without treatment; 3) to assess outcome measures and biomarkers that are, or may one day be, used in clinical trials to understand how they behave in this population. Supporting the AS NHS allows clinical trial design to be well vetted for functionality, assessment burden, and baseline expectations, which will help to inform later stage drug development for sponsors.
Principle Investigator
Wen-Hann Tan, MD
Dr. Wen-Hann Tan is a clinical geneticist at Boston Children’s Hospital and at KK Women’s and Children’s Hospital in Singapore. He has led the Angelman Syndrome Clinical Research Group at Boston Children’s Hospital since September 2006 and is the co-Principal Investigator / sponsor of the multicenter Angelman Syndrome Natural History Study. He has previously served as site principal investigator of multiple industry-sponsored Angelman syndrome clinical trials at Boston Children’s Hospital, and he is now a site co-investigator on most of the industry-sponsored Angelman syndrome clinical trials at Boston Children’s Hospital and at KK Women’s and Children’s Hospital. He is currently on the Steering Committee of a phase 1 gene replacement therapy trial in Angelman syndrome, and he also sits on the Angelman Syndrome Foundation Scientific Advisory Committee and Medical Advisory Council.
In addition to his work on Angelman syndrome, Dr. Tan is also on the Medical and Scientific Advisory Board of the ASXL Rare Research Endowment (ARRE), which supports individuals with the ASXL-related disorders, i.e., Bohring-Opitz (ASXL1), Shashi-Pena (ASXL2), and Bainbridge-Ropers (ASXL3) syndromes, which are all rare neurodevelopmental disorders.
