Survey Says… Your Data Matters

Quick Overview

The session “Survey Says… Your Data Matters” at the 2024 ASF Family Conference highlighted the importance of data collection and participation in research for the Angelman Syndrome community. The event, styled as a game show, aimed to educate attendees on various research opportunities, including the Global Angelman Syndrome Registry, the Angelman Natural History Study, and the LADDER database. These initiatives collect and harmonise data to support research, therapeutic development, and clinical practice. Participants were encouraged to contribute data, which is crucial for understanding the syndrome and developing treatments. The session emphasised the need for data from adults with Angelman Syndrome, as well as the importance of ongoing participation in studies to track developmental progress. The panel also discussed the potential of gene therapy and the importance of challenging existing assumptions about treatment windows based on animal models. Overall, the session underscored the collective effort required to advance research and improve outcomes for individuals with Angelman Syndrome.

The 2024 ASF Family Conference hosted an engaging session titled “Survey Says… Your Data Matters,” which highlighted the importance of data in advancing research and treatment for Angelman Syndrome. The session, styled as a game show, was led by Katie Garbarini and featured a panel of experts from various research teams and organisations dedicated to understanding and treating Angelman Syndrome.

Understanding Research Opportunities

The session aimed to educate attendees about the various research opportunities available to the Angelman Syndrome community. The panelists discussed the differences between these opportunities and emphasised the impact of participation in research. The goal was to empower families with the knowledge and confidence to navigate these opportunities effectively.

The Global Angelman Syndrome Registry

Nikki Armstrong, a genetic counsellor, introduced the Global Angelman Syndrome Registry (GASR), a web-based, international registry that collects data from caregivers of individuals with Angelman Syndrome. The registry is crucial for identifying where individuals with the syndrome are located, which aids in planning clinical trials and understanding the prevalence of the condition. Participation is straightforward, requiring registration and consent, and can be done at one’s own pace.

The Angelman Natural History Study

Dr. Wen-Hann Tan discussed the Angelman Natural History Study, the largest of its kind, which has been running for 18 years. This observational study combines virtual and in-person assessments to gather comprehensive data on Angelman Syndrome. The data collected is vital for drug companies to determine the efficacy of their treatments and for understanding the syndrome’s progression.

The LADDER Database

Dr. Anne Wheeler explained the LADDER database, which aims to consolidate data from various sources to maximise research potential. By harmonising data from registries, clinical trials, and clinics, LADDER provides a comprehensive resource for researchers and pharmaceutical companies. This effort helps in therapeutic development and informs clinical practice, ultimately benefiting individuals with Angelman Syndrome and their families.

Data Sharing and Therapeutic Development

Sarah Potter highlighted the process of data access and its role in therapeutic development. Researchers and companies can request data to aid in clinical trial design and outcome measure determination. The session underscored the importance of data in moving the field forward and designing effective clinical trials.

Industry Perspectives

Dr. Rob Komorowski from Ionis and Dr. Kim Goodspeed from Ultragenyx shared their perspectives on the value of data in drug development. They emphasised the importance of longitudinal data and the role of registries in understanding the natural history of Angelman Syndrome. Both expressed gratitude to families for their participation, which is crucial for developing new treatments.

Engaging the Community

The session concluded with a Q&A, where the panelists addressed questions from the audience. They stressed the need for more data on adults with Angelman Syndrome and encouraged participation in studies. The discussion also touched on the potential of gene therapy and the importance of challenging existing assumptions about treatment windows.

Overall, the session was a testament to the collaborative efforts of researchers, clinicians, and families in advancing the understanding and treatment of Angelman Syndrome. The data collected through these initiatives is not only vital for current research but also holds the promise of future breakthroughs in treatment.