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© 2025 FAST | All Rights Reserved.
For Families
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We began the day with a beautiful and heartfelt address from Liesl Tesch MP, Member for Gosford, Deputy Government Whip, Parliamentary Secretary for Families and Communities, and Parliamentary Secretary for Disability Inclusion. Liesl is such a passionate advocate for our community, deeply committed to justice, fairness, equity and inclusion. Her words set the perfect tone for the day ahead, one filled with hope, progress and shared purpose. She reminded us that progress in rare disease is not just about science; it is about people, compassion and collective determination.
This session was really born from listening to our community. As a parent, I know how it feels - even though the science has moved quickly, it can still seem like such a long wait. When planning this session, we discussed why progress sometimes feels slow despite so much happening behind the scenes.Every advance builds on years of groundwork - refining models, testing safety, building infrastructure - and while it’s not always visible, it all moves us closer. As Ed said,
“Every step forward shortens the road to real treatments.”
Barb used a brilliant analogy of building a house. Clinical trials are the roof, but you can’t put that on until the foundations and walls are strong. Every step, from early lab work to outcome measures and safety studies, builds that structure. The session also talked about the newest version of the FAST Roadmap 3.0, a strategic framework built around five key pillars, from replacing the missing UBE3A gene to ensuring clinical trial readiness and access once treatments are approved. 🔗 Watch Ed Weebers presentation "Therapeutics 101" from the 2024 Global Summit (19min)
Emma and Niki have such a beautiful presentation style, clear and empathetic. They made a complex topic feel accessible and relevant to everyone in the room. The Sydney community may already know Emma through the clinic. She is also well known across the rare disease space for her work and her compassionate approach to families.
This was Niki’s first visit to Australia, although she isn’t a stranger to many of us, joining Megan Tones as a data curator for the Global Angelman Syndrome Registry. Genetics remains central to understanding Angelman syndrome and developing effective treatments. Emma and Niki walked us through the main genotypes: deletion, mutation, UPD, ICD and mosaicism, explaining how each influences both the condition and how future therapies might work. For many families, this session brought real clarity. Understanding your child’s genotype isn’t just a piece of information on a report; it can help guide care today, eligibility for clinical trials and the treatments that may one day be possible. Mosaicism in particular is helping researchers learn how even partial UBE3A activity can shape outcomes, offering new hope for therapeutic development. 🔗 Watch this YouTube clip "Learn about all 5 AS Genotypes" and share with those internested in leraning about all genotypes
The whole day was really built on Allyson’s Roadmap to a Cure presentation, the one she delivers each year at the FAST Global Science Summit. She is an absolute powerhouse, and we are incredibly lucky to have her share that same energy, insight and determination here in Australia. Her dynamic and inspiring style always leaves you feeling that progress is not only possible but within reach. Allyson gave a powerful behind-the-scenes look at the systems and collaborations required to move discoveries from the lab into clinical testing. She spoke about how FAST’s global initiatives, such as AS2Bio and the Angelman Biomarker and Outcome Measure Consortium (ABOM) are bridging the critical gap between scientific discovery and clinical application, often referred to as the “valley of death.” Her message resonated deeply: success depends on preparation, persistence and partnership.
“Every child, adult and caregiver living with Angelman syndrome has incredible value. Together, we are not just imagining a brighter future; we are building it, one discovery, one breakthrough, one child at a time.” – Dr Allyson Berent
🔗 Visit the As2Bio website.
Focusing on Pillar 1 of the FAST Roadmap, replacing the missing maternal UBE3A gene or protein. It was especially meaningful to have Christoph Tautphäus, our outgoing FAST Australia board member, host the discussion with Allyson and Barb rejoining the stage. They explored the different approaches underway to restore UBE3A function in the brain, from gene replacement therapies to enzyme and cell-based strategies. Allyson shared updates on MVX-220, a one-time gene therapy developed by MavriX Bio, which has now received FDA clearance to begin first-in-human studies in 2025. Just days after our conference, MavriX announced the start of this clinical trial, the first program within this pillar to reach that stage, which is incredibly exciting. Other approaches, such as lentiviral stem-cell therapy and enzyme replacement, are also progressing, each aiming to safely deliver a functional UBE3A protein to the brain. The science may follow different routes, but all share one goal: restoring what is missing to change the lives of those living with Angelman syndrome.
With Allyson and Barb sharing their insights, it truly felt as though all the brilliant minds driving these approaches were in the room with us.
🔗 MavriX Bio press release on MVX-220 FDA Fast Track Designation.
If replacing mum’s UBE3A is one route to a cure, turning on dad’s gene is another. Moderated by Dr Alex Johnson, this session focused on Pillar 2 of the FAST Roadmap, exploring therapies that aim to activate the silent paternal copy of UBE3A. Alex facilitated an amazing conversation, many Sydney families will know her from the clinic or through her involvement in past and ongoing Angelman syndrome trials. We heard about three major antisense oligonucleotide (ASO) programs now in or entering Phase 3 trials, led by Ionis, Ultragenyx and Oak Hill Bio, along with next-generation approaches such as CRISPR, artificial transcription factors and small molecules. We deliberately did not focus on trial results, as Australian legislation prevents companies from appearing to promote clinical trials. Instead, the conversation centred on the science, the current state of each program, and the collaboration and global momentum driving these programs forward.
We also saw a video presentation from Dr Yong-hui Jiang, brilliantly summarised by Allyson.
🔗 ClinicalTrials.gov page for ION582 (/REVEAL)
🔗 Oak Hill Bio Press Release Rugonersen (Beacon).
This session focused on Pillar 3 & 4 of the FAST Roadmap, Pillar 3 looks at the adjacent genes to UBE3A and is likely to be most relevant for individuals with deletion or UPD genotypes. Pillar 4 explores therapies that do not aim to fix the UBE3A gene itself but instead target the downstream effects of its loss to improve symptoms and quality of life.
Roche provided a video update on its Alogabat program, which targets GABA-A receptors affected in deletion genotypes, with Brisbane sites now fully enrolled.
FAST Australia Chairperson Shane Jez, who would be no stranger to anyone, led the discussion with James Shaw from Neuren Pharmaceuticals and Dr Alvin Huang from Brown University. James provided a brief update on NNZ-2591, which continues to progress through clinical testing across several neurodevelopmental conditions. It was also Dr Huang’s first visit to Australia, and his presentation was a highlight. He shared promising early research exploring compounds that act on BDNF and oligodendrocyte precursor cells (OPCs), both potential pathways to improve neuronal communication and learning in Angelman syndrome. 🔗 Watch the video from the FAST Global Summit 2024 about BDNF Signaling 🔗 and Dr Huang's presentation from the 2024 Summit on New Insights into Angelman Syndrome: Exploring UBE3A’s Diverse Role in Brain Development and Health
🔗 Roche Alogabat Clinicaltrials.gov listing
This session focused on Pillar 5 of the FAST Roadmap and highlighted the essential work underway to ensure families are ready when treatments arrive. FAST Global Advisor Ellen spoke about how this is a global effort, and how each country must take responsibility for building readiness at the national level.
Niki returned to the stage to discuss the evolution of the Global Angelman Syndrome Registry, the importance of the asNavigators clinical nurse network, and the ongoing commitment to improving care and data quality. Richard, in his first experience with the Angelman community, spoke beautifully about the importance of Health Technology Assessment (HTA) readiness to make sure future therapies are both accessible and affordable.
We also met Stef Cola from Ligantic, who has been working with FAST behind the scenes for some time, and learned about their role in re imagining the Registry and developing the new asNavigators Chatbot.
By this point in the day, we were starting to run a little behind schedule, so we didn’t go into as much detail as we would have liked. I look forward to sharing more updates on these important initiatives soon.
For me, this kind of work might not always feel as exciting as the research, but it is every bit as necessary. Everything we do is about getting to that end goal - making sure that when treatments are here, families everywhere can actually access them.
🔗 Suggested links: 🔗 asNavigators website
🔗 Try out the new asNavigators digital assistant here. 🔗 Global Angelman Syndrome Registry signup. 🔗What is a Health Technology Assesment? Quick explainer video
The final session brought the focus home to Australia and featured two amazing members of our clinical trials community, Michael from Brisbane and Kaitlyn from Sydney. Both shared a warm and insightful look at what really happens inside a clinical trial, from recruitment and eligibility to what goes on behind the scenes when the updates go quiet. It was really clear that they have both developed an understanding - and love - for our kids over their years running clinical trials. Prof Richard De Abreu Lourenco remained on stage to explain more about how trials are structured, the different stages they move through and the types of studies currently underway. It was a great way to finish the day, informative, practical and reassuring. Families left with a clearer understanding of how every question, every data point and every participant contributes to the collective effort to move these therapies toward approval.
💙 Thankyou... I want to extend my heartfelt thanks to all our speakers, sponsors and every family who joined us for Day one. A special thank you to those who travelled long distances to share their inspiration, knowledge and experience with our community. Your commitment means so much and truly makes days like this possible. It was an energising and hopeful day, and I’m so grateful to everyone who helped bring it to life. Together, we really are shaping the future.