Update on the Natural History Study in Angelman Syndrome
Dr. Anjali Sadhwani and Dr. Wen-Hann Tan presented an update on the Natural History Study in Angelman Syndrome at the 2019 FAST Science Summit. The study is an observational, longitudinal study that collects data on individuals with Angelman Syndrome over a long period of time. The study aims to understand the natural progression of the syndrome and gather data that can be used to develop effective therapies and clinical trials. The researchers discussed the importance of the study in determining whether side effects observed in therapeutic trials are due to the syndrome itself or the product being tested. They also highlighted the benefits of the study in learning more about Angelman Syndrome and building the infrastructure for future clinical trials. The researchers shared findings from their previous natural history study, including the discovery of new symptoms and variations in the syndrome. They also discussed the challenges faced in recruitment and the need for more participation from adults with Angelman Syndrome. The researchers then presented the new study, which addresses previous challenges and includes standardized measures, remote follow-up, and a home video pilot project. They emphasized that participation in the study does not preclude enrollment in other studies or clinical trials. The study is currently open at Boston Children’s Hospital and Rady Children’s Hospital, with plans to expand to other sites. The researchers expressed their gratitude to the study coordinators, research assistants, and participating families for their contributions to the study. They encouraged attendees to visit their booth for more information and to ask questions.
Dr. Anjali Sadhwani and Dr. Wen-Hann Tan, both from Boston Children’s Hospital, presented an update on the nationwide multi-center Angelman Syndrome Natural History Study at the 2019 FAST Science Summit. They discussed the importance of natural history studies in understanding the progression of Angelman Syndrome and its impact on the development of clinical trials and therapeutic products.
What is a Natural History Study?
A natural history study is an observational study that collects data on individuals with Angelman Syndrome over a long period of time. It involves longitudinal assessments and in-person evaluations to reduce recall bias and improve data quality. The study aims to complement the global AS registry by collecting prospective data and studying a wide spectrum of manifestations.
Importance of Natural History Studies
Natural history studies are crucial for the development of clinical trials and therapeutic products. They help determine whether observed side effects in a trial are due to the syndrome itself or the product being tested. These studies also aid in the development of endpoints for clinical trials and provide valuable insights into the symptoms and characteristics of Angelman Syndrome that may not be found in textbooks or published literature.
Findings from the Natural History Study
The initial natural history study conducted from 2006 to 2014 enrolled 802 participants with Angelman Syndrome. It revealed important information such as the presence of normal muscle tone in some individuals, differences in development based on molecular subclass, and changes in anxiety and aggressive behaviors over time. The study also collaborated with industry and academic groups to study EEG characteristics and the psychosocial and economic impact of Angelman Syndrome.
Challenges and New Study
The natural history study faced challenges in recruitment and retention, particularly in enrolling adults with Angelman Syndrome. To overcome these challenges, a new study was launched in 2017 with funding from the FDA. The study engaged ASF clinics as study sites to reduce the burden on families and standardized the administration of outcome measures. It also introduced a home video pilot project to assess development in a less stressed environment. The study is currently open at Boston Children’s Hospital and Rady Children’s Hospital, with plans to expand to other sites.
Call for Participation
The researchers emphasized the need for more participants, especially adults with Angelman Syndrome, to better understand the natural history of the syndrome in this population. They encouraged families to participate in the study, even if they are also enrolled in other clinical trials. The study requires an initial visit to one of the study sites, followed by remote follow-up visits via phone consultation.
The researchers expressed their gratitude to the study coordinators, research assistants, and study teams at the different sites. They also thanked the participating families for their time and commitment, which has contributed to the valuable data generated by the study.
The update on the natural history study in Angelman Syndrome highlighted the importance of long-term observational studies in understanding the syndrome and developing effective therapies. The researchers encouraged families to participate in the study and provided information on how to get involved.
- Title: Update on the Natural History Study in Angelman Syndrome
- Author(s): Anjali Sadwani, Wen-Han Tan
- Author(s)’ affiliation: Boston Children’s Hospital
- Publication date: 2019-12-27
- Collection: 2019 FAST Science Summit