Industry
Angelman Biomarker and Outcome Measure Consortium
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 is held as part of the Annual FAST Science Summit and includes a larger audience, with the addition of Regulators, biostatisticians, endpoint developers, and other clinicians/academicians. The ultimate goal of the consortium is to advance regulatory science for Angelman syndrome (AS) to understand, develop, test, and validate different tools that can assess meaningful clinical outcomes for individuals living with Angelman syndrome.
History & Vision
A-BOM was established in 2016 as a collaborative effort between the leading patient advocacy groups in Angelman syndrome, clinicians with history and knowledge of clinical outcome measures being used to assess individuals with Angelman syndrome, and industry members that were looking to design clinical trials for 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)
Established in 2016:
5 steering committee members
25 participants
AS advocacy groups
5 academics
3 pharma companies
Zero funded research projects
No regulatory engagement
Focus on priorities for industry/gap analysis on endpoints and biomarkers.
Current status in 2024:
26 steering committee members
>300 participants
AS advocacy groups
>25 academics
>15 pharma companies
Multiple funded research projects
Continued regulatory engagement
FAST Committed over $4.5M since 2016
Mission
To create and 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
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. This NHS alone in the US and Canada has published over 45+ papers from this dataset and has enrolled nearly 600 individuals longitudinally.
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.