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What is ABOM and why does it matter?

You may know what the ABOM is: The Angelman Syndrome Biomarker and Outcome Measure Consortium (ABOM).

But do you know why it matters? Why FAST has invested over $2M into its acceleration?

The ABOM is a consortium that brings together hundreds of members including pharmaceutical companies, clinicians, translational research teams, and patient advocacy groups, in order to advance endpoints and biomarkers, which are required to accurately test drugs in clinical trials.  

The ABOM Consortium is made up of a team of over 300 people that have interest in advancing the regulatory science to understand, develop, test and validate different tools that can assess individuals living with Angelman syndrome in a way that can get at what is both meaningful and measurable in their lives. If a drug provides a transformative benefit, we want it to be easily determinable—because this, in turn, helps support drug approvals.

This team has developed a list of priority symptoms experienced in Angelman syndrome that drug companies are focused on trying to improve. Those include challenges faced by patients in areas of communication, gross motor and fine motor skills, behaviors, sleep, seizures, cognition, independence/activities of daily living, and patient and caregiver quality of life. In addition, this team is working together to develop the best biomarkers, which are objective measures like EEG, body fluid protein changes, etc., that can be utilized by multiple parties to accelerate clinical trial design and execution by the entire ecosystem working in the Angelman syndrome space.

There are 45 members of the Steering Committee (SC) of the ABOM, who meet 4 times a year to drive clear objectives and deliverables. This team is Co-Directed by Dr. Allyson Berent, the Chief Science Officer for FAST, and Jennifer Panagoulias, an expert in regulatory sciences who has been working in industry for over 20 years, and is supporting drug acceleration for Angelman syndrome through the Foundation for Angelman Syndrome Therapeutics. The SC is made up of 12 pharmaceutical/biotechnology partners working on Angelman syndrome, alongside the Foundation for Angelman Syndrome Therapeutics, The Angelman Syndrome Foundation, academic clinicians who are experts in Angelman syndrome neuropsychological testing, and parent representatives.

On July 31, 2022, the steering committee came together in person in Austin, Texas, prior to the Angelman Syndrome Foundation Conference, to ensure that we were advancing these endpoints and aligned on goals, objectives and deliverables for 2022, of which the science and results will be presented in person on December 1, 2022 the day prior to the FAST Global Science Summit.

FAST has a strategic roadmap that focuses on 4 main pillars: 1) replacing UBE3A, the missing or non-functional gene or protein, into neurons of patients, 2) activating the silent paternal copy of the UBE3A gene in neurons, 3) improving function/coordination of neurons at the synapse (downstream targeting improving the communication between 2 neurons), and 4) accelerating and preparing for clinical trials. The ABOM focuses on the 4th pillar.  Through this initiative we have developed specific, measurable and meaningful endpoints for Angelman syndrome in many areas.  A survey was performed in over 300 caregivers of those living with AS, and communication was documented as the number 1 endpoint where improvement was desired. Through this work FAST funded the complete development of an Angelman syndrome specific communication endpoint, the ORCA (Observer Reported Communication Ability), which is being utilized in all three of the AS ASO clinical trials, as well as the Natural History Studies that are being executed globally (e.g. US, Canada, UK, Spain, etc). Since the development of the ORCA, the FDA has subsequently granted the ORCA development team at Duke University over $2M to further advance this endpoint for 14 other neurodevelopmental disorders. This is a great sign that this tool is believed to capture the complex communication in populations like AS.

In addition, FAST has also supported a gross motor endpoint, call the Actimyo, which is a device wearable on the ankle, and which is now being utilized in 2 of the active ASO clinical trials. Other measures that FAST is actively funding through the ABOM initiative is the assessment of a the Quality of Life Scale for both parents and caregivers so that the impact AS has on the patient and their caregiver are recognized and measured, and a correlation study to look at the meaningfulness of the measures being tested in the Vineland (VABS-3) and Bayley Scale of Infant and Toddler Development (BSID-4), which are measures that have a large amount of data based off the AS natural history studies, and those with which the regulatory agencies have a lot of experience.  These are just a few examples, but each focus domain is being advanced similarly.

Stay tuned to hear more about our learnings from our annual ABOM scientific symposium being held on December 1, 2022 at the Diplomat Hotel in Miami Florida. At this meeting over 300 members of the team will attend, both in person and virtually, to present updated data they have collected over the year to advance each of these endpoints and biomarkers. This effort is creating a platform that all industry partners can leverage, and many other rare diseases are modeling.

To read more about the ABOM, check out this blog by Dr. Joseph D’Orazio, a parent to Gabe, who is a member of the ABOM Consortium.