Angelman Syndrome Biomarkers and Outcome Measures Consortium (A-BOM)
What is A-BOM?
In partnership with FAST and the Angelman Syndrome Foundation, the A-BOM Consortium is a pre-competitive effort co-directed by Dr. Allyson Berent, FAST’s Chief Science Officer, and Jennifer Panagoulias, RAC, FAST’s head of Regulatory and Policy. The A-BOM is made up of a steering committee with participation from patient advocacy groups, industry, academics, clinicians, and caregivers.
The A-BOM steering committee meets quarterly to determine prioritization of new projects, review progress towards goals, and emerging data. An end-of-year review of projects intended to advance outcome measures and biomarkers for use in clinical research is held as part of the Annual FAST Science Summit and includes a larger audience, with the addition of Regulators, biostatisticians, and other clinicians/academicians. The ultimate goal of the consortium is to advance the regulatory science for Angelman syndrome (AS) by understanding, developing, testing, and validating different tools that can assess meaningful, and measurable, clinical outcomes for individuals living with AS.
Mission & Impact
Our mission
The consortium priorities are to:
- To create and/or identify drug development tools that will advance the regulatory science in Angelman syndrome
- Help reach consensus on the best outcome measures in each functional domain as highlighted in the disease concept model
- Engage with regulators to ensure the efforts of the A-BOM are aligned with regulatory needs
- Assess existing tools that are fit-for-purpose for Angelman syndrome or adapt existing novel tools using scientific rigor
- Establish a framework for clinical trial design to benefit ALL sponsors and therapeutic modalities to maximally benefit ALL patients
Our Impact
The efforts of this consortium have supported the growth, focus, and publication of some of the most robust natural history datasets (NHS) for a rare disease. This dataset is being utilized by dozens of individuals in the field to understand how to optimally design clinical trials and with the goal to detect meaningful change over time. The NHS in the US and Canada has published over 45+ papers and has enrolled over 600 individuals since 2006.
History & Vision
A-BOM was established in 2016 as a collaborative effort between the leading patient advocacy organizations in Angelman syndrome, clinicians with history and knowledge of clinical outcome measures being used to assess individuals with AS, and industry members that were looking to design clinical trials and develop therapeutics for those living with AS. It was launched with 5 steering committee members and 25 active participants with a focus on determining the clinical domains of interest that are most impacted in the lives of those living with AS. The team started by creating a disease concept model which allowed for a gap analysis on available, and useful, outcome measures and biomarkers for AS, as mapped to the key symptoms of interest to caregivers (Figure of domains, endpoints and where we landed)
A-BOM at a Glance
FAST Committed ~ $5.2M since 2016
Established in 2016
As of 2026
Steering committee members
5
26
Active Participants
25
More than 300
Academic participants
5
More than 25
Industry participation
3
More than 15
Funded research projects
0
Multiple
Regulatory engagement
none
Ongoing regulatory engagement
Angelman Syndrome Natural History Studies
The A-BOM plays a pivotal role in the current era of the Angelman Syndrome Natural History Study through funding and oversight by a sub-set of the membership.
A-BOM-supported and A-BOM-aligned Notable Publications
- Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model – PubMed (nih.gov)
- Validation of the Observer-Reported Communication Ability (ORCA) Measure for Individuals With Angelman Syndrome – PubMed (nih.gov)
- Understanding reliability of the observer-reported communication ability measure within Angelman syndrome through the lens of generalizability theory – PubMed (nih.gov)
- Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III – PubMed (nih.gov)
- Developmental milestones and daily living skills in individuals with Angelman syndrome – PubMed (nih.gov)
- Delta power robustly predicts cognitive function in Angelman syndrome – PubMed (nih.gov)
- Quantitative measures of motor development in Angelman syndrome – PubMed (nih.gov)
- Qualitative Insights into Key Angelman Syndrome Motor Related Concepts Reported by Caregivers-A Thematic Analysis of Semi-Structured Interviews – PubMed (nih.gov)
- Development of an adapted Clinical Global Impression scale for use in Angelman syndrome – PMC (nih.gov)
- Developing Angelman syndrome-specific clinician-reported and caregiver-reported measures to support holistic, patient-centered drug development – PubMed (nih.gov)
Join A-BOM
A-BOM welcomes collaboration from people and organizations committed to advancing meaningful, scientifically rigorous clinical research in Angelman syndrome.
If you are interested in joining A-BOM, learning more about the consortium, or exploring opportunities to collaborate, please send an email. We look forward to connecting with you.