The Coast 2 Coast Challenge benefiting the SYNGAP1 #ProMMiS for Clinical Excellence is critical. #S10e152

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 contribution matters.
  • This requires our entire S1 network to solicit family, friends, work colleagues, companies, etc. to contribute. Many causes out there – why not ours?
  • Syngap.Fund/C2C

https://Syngap.Fund/C2C > https://secure.givelively.org/donate/syngap-research-fund-incorporated/coast2coast-clinics-challenge

Two teams: 

https://Syngap.Fund/West & https://Syngap.Fund/East