Tuesday, October 22, 2024 First Principles Genetic disease means that gene broken since conception. Novel medicines are possible ways to fix the gene - Genetic Therapies (ASO &/or AAV), this is recent, before now, kids with these diseases were a “go home and love them” situation. These are delivered via spinal tap or directly to the brain in leading medical centers. First though, regulators must approve. Our job Develop medicines or get industry to - This is happening see Pipeline Get regulators to approve trials Get medical centers up to speed on SYNGAP1-Related Disorders (SRD) What we are building on CHOP ENDD funded externally (see #S10e92) and replicating what was built for STXBP1, check last week’s webinar https://curesyngap1.org/resources/webinars/93-endd-chop-2024-syngap1/ Rare-X platform for PRO collection Regulatory pathway being made clearer every day by Stoke (Dravet), Praxis (SCN2A), Ionis (many) all of whom are working on SYNGAP1 as well. What we are asking for We need to raise at least $500k (3rd site), preferably $1.13M (ProMMiS) Make your largest gift ever to SRF Fundraise with friends and family ACES is now ProMMiS, who knew ACE meant Adverse Childhood Event, not us. Key slides: S1 Path to Treatment | 2024 (09.27.24) 1. Why Now? Why is it time to go from bench to bedside (research to clinical)? At least 10 companies on our pipeline not to mention multiple small molecule efforts We have limited resources – so the focus has to transition, clinical funding first. CHOP Gift is 1 year down… 2. Why NHS?Understand SYNGAP1 better, go beyond Vlaskamp 2019 and Wiltrout 2024, see #S10e105 FYI at CHOP, as I shared in #S10e151, at year 1, we are at – 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd) + 22 (follow up) Learn what to measure in clinical trials for SRD, remember our seizures are challenging Ideally we develop a Synthetic Control Arm if we use GCP Why top shelf? We need institutions the FDA will take seriously and our children are very complex requiring experienced clinicians. 3. Why Multidisciplinary. Neuro, Psych, Genetics, PT, ST, OT, GI, Sleep, ENT, Ortho. Beyond the sheer burden of getting our kids out and about for multiple appointments the coordination by a parent is almost impossible. 4. Why Multisite/3 sites?Replicable/scalable required by regulators Accessibility (not primary reason) Establish more locations where trials will be managed Laying a foundation for a national self-sustaining network 3 is the minimum, look at STARR or Angelman, both had/ve 4. 5. How and why so fast? Because we can. Time is Brain. Following a well trodden path SMA, Rett, Angelman, Dravet, but we are moving FASTER. 6. Does the industry really care? We are next there are so so many behind us, eager to take the resources we have access to today. Market size (Per our Census 425 US/1500 global is tip of iceberg) Multiple players reassuring each other Relatively strong amount of scientific and clinical research Haploinsufficiency (like Dravet – STOKE) – so relatively easy 7. Expensive? No. Clinical Research is more expensive than basic scientific research. Leveraging CHOP and Rare-X, setting up required networks to prepare for clinical trials. It’s time. 8. Why Bother/Help? Now is the time for SYNGAP1, we miss it at our peril. Sure, once in these places we will still see our patients, but the study, the support and the focus may pass. Our kids don’t die, regardless of patient age, what we are doing can change their future and that of their loved ones and caregivers. If not us, then who? It is a rare exception when a non-family member gives a gift, and it is always because a family member asked. We must ask. 9. What can I do? Donate to, share, join our Coast2Coast Clinics Challenge – two SYNGAP1 Squads in West and East – it’s critical $500k goal by end of 2024; more than $1M needed just for the SYNGAP1ProMMiS. So far, donations from $25 to $25,000 – each and every contri
