ANGELMAN SYNDROME

Professor Ed Weeber (FAST United States) and Dr Barbara Bailus (The Keck Graduate Institute)

If you’ve ever wondered why treatments still feel out of reach or found yourself thinking you’ve heard it all before, this is where we begin the day. We’ll explore how research transitions from the lab to real-life applications and why this process can take time. It’s okay to feel impatient, and it can be especially hard when clinical trials seem to be happening in the background, and you aren’t hearing much. Often, that silence is not about keeping you in the dark but about protecting sensitive work as it moves through critical stages. Even if it hasn’t always felt visible, progress is happening. The future remains incredibly bright. Angelman syndrome is at a turning point, and FAST is helping to make sure that no promising path is left unexplored.

Drs Allyson Berent (FAST United States, AS2Bioand ABOM), Elizabeth (Emma) Palmer, (Sydney Childrens Hospital Network) and Niki Armstrong (FAST United States)

We revisit genetics every conference because it’s foundational and, let’s be honest, not easy to absorb all at once. Each time we explain it, we hope it becomes a little clearer. This session will help you understand the different genotypes, why deletions introduce added complexity, and how mosaicism is helping shape new perspectives. Even if you’ve heard some of this before, it’s worth revisiting - because understanding it can help make sense of the treatments being developed.

Drs Allyson Berent (FAST United States, AS2Bioand ABOM)

You may have heard of ABOM, INSYNC-AS or AS2Bio and wondered what they actually do? In this session, we’ll explore the behind-the-scenes work that makes clinical trials possible, from collecting critical data to building global research tools that help us track progress across genotypes and geographies. We’ll also talk about the importance of identifying gaps early, anticipating challenges, and figuring out what we don’t know yet, so we’re ready for all shots on goal. This is where planning meets possibility. You’ll hear how FAST is supporting a range of approaches to make sure no opportunity is missed, and every child has a chance.

Christoph Tautpaheus (FAST Australia Board), Drs Allyson Berent (FAST United States, AS2Bioand ABOM) & Dr Barbara Bailus (The Keck Graduate Institute)

One approach to therapeutics, known as Pillar 1, focuses on replacing the missing or non-functional UBE3A gene or protein in the brain. In this session, we’ll explore what that actually means, who’s leading the charge, how the treatment might be delivered, how far we might be from seeing these therapies in the clinic, and what it could mean for your loved one, no matter their genotype. Whether this is your first introduction to gene replacement or you’ve been following closely, this session brings you up to speed on one of the most promising areas of progress.

Drs Alexandra (Alex) Johnson (Sydney Children’s Hospital Network), Allyson Berent (FAST United States, AS2Bioand ABOM) & Dr Barbara Bailus (The Keck Graduate Institute), Rob Komorowski (Ionis Therapeutics), Oak Hill Bio

Another area of therapeutic development focuses on “turning ondad’s gene” - activating the paternal copy of UBE3A. This is known as Pillar 2 of the FAST Roadmap, and it’s an area that has progressed from research to real-world clinical trials. In this session, we’ll hear directly from the teams behind three programs that are already being tested in children and adults, all now heading into phase 3, and new single treatment therapies that could accomplish a similar thing. We’ll explore how these treatments work, how they’re delivered, and what families involved in the trials are experiencing. If you’ve ever wondered how close we are to having approved therapies, this session offers one of the clearest glimpses yet.

Shane Jez (FAST Australia Chairperson) & Neuren pharmaceuticals, Dr Alvin Huang (Brown University)

Not every treatment in development is designed to alter DNA. Pillar 3 focuses on therapies that aim to improve the symptoms of Angelman syndrome by restoring balance in the brain, where things are out of sync. These approaches may help alleviate sleep disturbances, seizures, motor coordination issues, or other challenges associated with missing the UBE3A protein. In this session, we’ll explore what is in development, how these therapies work without altering genes, and whether they could offer meaningful improvements for children and adults across all genotypes. If you’re wondering what might help now or alongside other treatments, this session will be especially relevant.

Meagan Cross (FAST Australia), Ellen Koekoeckx (FAST Global), Niki Armstrong (FAST US), Stef Cola (Ligantic), Prof Richard De Abreu Lourenco (University of Technology Sydney).

It might not feel like the most exciting part of the roadmap, but it’s essential to turning research into real outcomes. Pillar 4 is about making sure we are ready when therapies arrive, with the systems, data, and clinical networks needed to deliver them. Access to treatment is not automatic, and every country must pave its own path. FAST Australia is focused on this work both globally and locally; the Global Angelman Syndrome Registry, aligning clinical champions, launching programs like asNavigators, preparing for health technology assessments, and progressing newborn screening. While a great deal of this work is also being led in the US, this session will focus on the contributions being made here in Australia and the work you are helping drive forward and the impact it is already having.

Dr Michael Duhig (Centre for Clinical Trials in Rare Neurodevelopmental Disorders, Queensland) , Kaitlyn Griffin (Kids Neuro Trials team, Sydney Children’s Hospital Network)& Prof Richard De Abreu Lourenco (University of Technology Sydney)

Clinical trials for Angelman Syndrome have been running inAustralia since 2020. Originally focusing on symptom management with offerings from Ovid and Neuren to more recent and complex, advanced therapies from Ultragenyx, Ionis and Oak Hill Bio. Despite increasing recognition many families are yet to hear or experience participating in a clinical trial. In this session, you’ll meet the teams running these trials who will hopefully “myth bust” some of the things you may have heard including the nutritional value of ECG dots.  They’ll walk through the different stages of clinical trials, why some assessments can feel overly cumbersome, what’s involved in getting a therapy approved, and how cost and reimbursement play a part in access. They will explain why some trials stay quiet, what makes a child eligible, and what participation actually involves, from screening to site visits and beyond. If you’ve ever wondered where things are at or how to get involved, this is the place to start.