Angelman Syndrome Natural History Study – How has it Benefited the Angelman Community over the Last 17 years?
The Angelman Syndrome Natural History Study has been ongoing for 17 years and is one of the largest natural history studies for a neurodevelopmental disorder. The study collects longitudinal data from participants, both prospective and historical, to understand the natural progression of Angelman syndrome and to develop outcome measures for clinical trials. The study has expanded access to participants by increasing the number of study sites and incorporating virtual visits. The data collected from the study have been instrumental in understanding the different molecular subgroups of Angelman syndrome, developing biomarkers such as EEG delta power, and determining the minimum clinically important threshold for change. The study is a work in progress and aims to continue collecting data to better understand the condition and support the development of effective treatments.
Dr. Wen-Hann Tan, a medical geneticist from Boston Children’s Hospital, is known for his work on the Angelman Syndrome Natural History Study. This study, spanning over 17 years, is one of the largest natural history studies for a neurodevelopmental disorder. In this talk, Dr. Tan discusses the importance of the study, its impact on the Angelman community, and the future directions of the research.
What is a Natural History Study?
A natural history study is an observational and longitudinal study that aims to understand the progression of a disease or condition over time. In the case of Angelman Syndrome, the study collects data from participants at multiple time points, allowing researchers to track changes and identify patterns. The study involves a mixture of prospective and historical data collection, reducing record bias and ensuring reliable data. Additionally, the study maintains a consistent team of investigators, reducing variability in assessments.
Importance of a Natural History Study
A natural history study is crucial for several reasons. Firstly, it helps researchers understand the natural progression of the condition, distinguishing it from the effects of potential treatments. This knowledge is essential for designing and evaluating clinical trials. Secondly, it allows researchers to develop expertise in the condition, improving the quality of clinical trials and patient care. Lastly, a natural history study provides an opportunity to study a diverse population, capturing the heterogeneity of the condition and its impact on individuals of different ages and backgrounds.
Evolution of the Angelman Syndrome Natural History Study
The Angelman Syndrome Natural History Study began in 2003 with funding from the National Institutes of Health (NIH). It took several years to establish the necessary infrastructure and launch the study, with the first participant enrolled in 2006. The initial study ran for eight years, collecting data from 302 participants across six study sites. However, there were challenges with attrition and limited representation of adults in the study.
In 2017, the study was restarted with funding from the U.S. Food and Drug Administration (FDA). This new iteration incorporated feedback from industry partners and aimed to reduce the burden on participants. The study adopted a hybrid model, combining in-person and virtual visits to minimize the time and effort required. The number of study sites increased to ten, including three in Canada, to improve access for participants. The study also incorporated updated outcome measures and explored new measures, such as at-home EEG.
Impact and Future Directions
The Angelman Syndrome Natural History Study has made significant contributions to the understanding of the condition. It has provided valuable data on cognitive development, molecular subgroups, and changes over time. The study has also facilitated collaborations with academic groups and industry partners, leading to the identification of biomarkers and the development of outcome measures for clinical trials.
Moving forward, the study aims to expand its participant base, particularly among adults with Angelman Syndrome. It plans to develop growth charts, a new clinical severity score, and further understand the long-term effects of the condition. The study also emphasizes the importance of longitudinal data and encourages participants to continue their involvement to enhance the value of the collected data.
The Angelman Syndrome Natural History Study has been instrumental in advancing the understanding of Angelman Syndrome and supporting the development of treatments. It relies on the participation of individuals and their families, who generously contribute their time and effort to provide valuable data. The study continues to evolve and welcomes new participants to further enrich its findings.
- Title: Angelman Syndrome Natural History Study – How has it Benefited the Angelman Community over the Last 17 years?
- Author(s): Wen-Hann Tan
- Author(s)’ affiliation: Boston Children’s Hospital
- Publication date: 2023-11-12
- Collection: 2023 FAST Science Summit