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INSYNC 2024 Round-Up

The 4th annual International Angelman Syndrome Research Council (INSYNC) meeting was held last week at the Simons Foundation’s headquarters in New York. Organized jointly by the Simons Foundation and FAST, this event brought FAST together with the Simons Foundation Autism Research Initiative (SFARI), researchers, industry sponsors, regulatory experts, clinicians, invited speakers and representatives from other rare mongenic neurodevelopmental disorder groups.

This meeting serves as a platform to provide pre-competitive, comprehensive insights into the landscape of Angelman syndrome research and drug development, with a focus on rare neurogenetic disease therapeutic development.

On Day 1, the focus was on the Angelman syndrome drug development landscape, learnings for the NDD community on the active clinical trials in AS, and gaining a comprehensive understanding of the varying perspectives from key stakeholders involved in the therapeutic pipeline, from basic research and discovery to clinical and regulatory requirements. Discussions included the unique roles and objectives of academic and industry laboratories, emphasizing the critical need for collaboration between these sectors to advance therapeutic approaches such as antisense oligonucleotides (ASO), gene therapy, and small molecule modalities. Importantly, the meeting highlighted the necessity of considering preclinical and regulatory requirements early in the development process - areas often overlooked in academic settings. In addition, the need for drug development acceleration was highlighted, and the role that patient advocacy groups like FAST must play to keep programs advancing toward first-in-human.

Day 2 provided updates on the progress of various other rare neurogenetic disorders, including STXBP1 disorders, Rett syndrome, CDKL5 Deficiency Disorder and SCN2A. Updates included their individual progress in discovery and drug development and highlighted efforts to both further understand each disorder through natural history studies, novel biomarkers and endpoints and the incredible progress being made in each area of therapeutic development.

Throughout the meeting, open communication, collaboration, and de-siloing research emerged as a central theme. FAST was honored to serve as a convener for such collaboration with a shared mission. Participants shared experiences, challenges, and successes in expanding these collaborative initiatives, funding research, vetting scientific ideas, attracting industry interest, and so much more. It was a true symbiotic exchange of insights and strategies among patient advocacy groups.

Overall, the INSYNC meeting served as a pre-competitive platform for fostering collaboration, sharing knowledge, and accelerating progress towards improving the lives of individuals affected by Angelman syndrome and other related genetic disorders.

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