Angelman Syndrome Biomarker and Outcome Measure Consortium: What’s the Hype? Why Does it Matter So Much?
The Angelman Syndrome Biomarker and Outcome Measure Consortium (ABOM) is a collaborative effort between foundations, pharmaceutical companies, clinicians, researchers, and parents to develop meaningful and measurable endpoints for clinical trials in Angelman Syndrome. The ABOM aims to identify the symptoms and functional domains that are important to families and develop tools to measure changes in these areas over time. The consortium has made significant progress in developing communication endpoints, global measures, motor function assessments, and biomarkers. The FDA has been supportive of the ABOM’s efforts and has provided guidance on developing endpoints specific to Angelman Syndrome. The ABOM encourages families to participate in natural history studies, surveys, and focus groups to provide valuable input on what is meaningful to them. The ultimate goal is to obtain regulatory approval for treatments that can improve the lives of individuals with Angelman Syndrome.
The Angelman Syndrome Biomarker and Outcome Measure Consortium (ABOM) is a pre-competitive group of stakeholders, including foundations, regulatory bodies, pharmaceutical companies, clinicians, researchers, and parents. The ABOM aims to develop and implement biomarkers and outcome measures for Angelman Syndrome, a rare neurodevelopmental disorder. In this talk, we will explore the importance of the ABOM and its efforts to improve the lives of individuals with Angelman Syndrome.
Allyson Berent, the Chief Science Officer for the Foundation for Angelman Syndrome Therapeutics, co-directs the ABOM alongside Jennifer Panagoulias. Berent’s personal experience as a mother of a child with Angelman Syndrome and her background in veterinary medicine and clinical trials make her uniquely qualified to lead this initiative.
Understanding Angelman Syndrome
Angelman Syndrome is a complex disorder characterized by symptoms such as communication difficulties, seizures, motor impairments, and cognitive challenges. To develop effective treatments, it is crucial to identify and measure the specific symptoms that impact individuals with Angelman Syndrome and their families.
The Importance of Biomarkers and Outcome Measures
Biomarkers and outcome measures play a vital role in clinical trials and treatment development. They help researchers and clinicians assess the effectiveness of interventions and measure changes in symptoms over time. The ABOM aims to identify and develop biomarkers and outcome measures that accurately capture the unique challenges faced by individuals with Angelman Syndrome.
The ABOM’s Work
The ABOM has made significant progress in its mission to improve the lives of individuals with Angelman Syndrome. Key initiatives include:
Natural History Study: The ABOM supports a comprehensive natural history study that collects data on individuals with Angelman Syndrome over a 15-year period. This study provides valuable insights into the progression of the disease and helps identify areas for intervention and measurement.
Global Angelman Syndrome Registry: The ABOM collaborates with the Global Angelman Syndrome Registry to identify and track individuals with Angelman Syndrome worldwide. This data helps determine the distribution of the population and informs the planning of clinical trials and support systems.
Disease Concept Model: The ABOM conducted interviews with clinicians and parents to understand the symptoms and challenges that are most meaningful to individuals with Angelman Syndrome. This information helps prioritize the development of biomarkers and outcome measures that accurately reflect the needs of the community.
Clinician and Caregiver Global Impression Change Scale: The ABOM is working on developing a scale that captures changes in communication, motor skills, behavior, and other domains. This scale allows clinicians and caregivers to assess the overall improvement or decline in an individual’s functioning.
Video Assessments and Gait Analysis: The ABOM explores the use of video assessments and gait analysis to objectively measure changes in motor function and gait patterns. These tools provide valuable data that can be used to evaluate the effectiveness of interventions.
Biomarkers: The ABOM investigates the use of biomarkers, such as protein levels in cerebrospinal fluid (CSF) and abnormal EEG patterns, to assess disease progression and treatment response.
The Role of the Community
Active participation from individuals with Angelman Syndrome and their families is crucial for the success of the ABOM’s initiatives. By joining studies, completing surveys, and participating in focus groups, community members can contribute valuable insights and help shape the development of biomarkers and outcome measures.
The Angelman Syndrome Biomarker and Outcome Measure Consortium is a collaborative effort that aims to improve the lives of individuals with Angelman Syndrome through the development of meaningful biomarkers and outcome measures. By actively participating in research studies and sharing their experiences, individuals and families affected by Angelman Syndrome can play a vital role in advancing the understanding and treatment of this rare disorder.
- Title: Angelman Syndrome Biomarker and Outcome Measure Consortium: What’s the Hype? Why Does it Matter So Much?
- Author(s): Allyson Berent
- Author(s)’ affiliation: FAST
- Publication date: 2022-12-03
- Collection: 2022 FAST Science Summit