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Comment on Haystack Petition to FDA. New Board of Trustees. #ICD10 F78.A1 #CureID #S10e205

Monday, April 20, 2026 – Week 17

CURE SYNGAP1 joins the Haystack Project in petitioning FDA for more clarity.
PR: https://static1.squarespace.com/static/5966cc2220099e91326caaec/t/69d7dbb80155f46e144ae2e5/1775754168227/4.9.26+press+release+petition_vf.pdf
Petition: https://static1.squarespace.com/static/5966cc2220099e91326caaec/t/69d7e016d5986e16ff09b64c/1775755288463/Letter+Head+Petition+for+rulemaking+to+amend%C2%A021+CFR+%C2%A7+314.126+and+%C2%A0%C2%A7312.47+%281%29.pdf
Reuters 4/1: https://www.reuters.com/sustainability/boards-policy-regulation/rare-disease-advocacy-group-urges-trump-administration-restore-fda-clarity-2026-04-01/
Pink Sheet: https://insights.citeline.com/pink-sheet/pathways-and-standards/review-pathways/could-structured-not-ad-hoc-us-fda-flexibility-increase-rare-disease-development-certainty-BYXJENIJLFEINOSO72RS53ZJHE/

Show your support here: https://www.regulations.gov/document/FDA-2026-P-3666-0001

  • Paragraph 1 – Share information about you and SYNGAP1.
  • Paragraph 2 – Seizures are hard to count while X, Y and Z are major burdens but FDA wants nice countable seizures, this makes it hard to develop drugs.
  • Paragraph 3 – How could “clinically meaningful” endpoints potentially help your community and drug developers? How could a study design other than a ‘randomized clinical trial’ help? How could FDA consulting with disease-specific experts help?
  • Closing – Finish your letter with anything along these lines: “We support the framework for all rare set diseases in Haystack’s petition. We don’t believe FDA has to lower the evidentiary bar to approve treatments for our diseases. Randomization isn’t always possible. New scientific methods should be considered. Endpoints specific to our disease should be considered. We urge FDA to open a rulemaking so we can have a legally binding regulation.”

Board changes, thank you to everyone. https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-patientadvocacy-activity-7450528611339616256-4MJF
Press Release cureSYNGAP1.org/PR45

US, use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142

Study list!

CURE-ID is cool! https://cure.ncats.io/home
Webinar: Thu May 7, 2026 1:30pm – 3pm (PDT); Register – cureSYNGAP1.org/cureID

6th ANNUAL SPRINT FOR SYNGAP1, EVERYWHERE – 5 days – $207k! Go Tavilla.
17 teams raised $265K last year; this year, we have 20+ teams!
https://curesyngap1.org/calendar/sprint4syngap-2026
Thank your Rifton for the donation of the tricycle.
Email today: https://mailchi.mp/curesyngap1.org/sprint-for-syngap-2026-one-community-one-goal

INAUGURAL SF NIGHT OF IMPACT, CA – 38 days
Join us this is our only Gala for 2026!
cureSYNGAP1.org/SF26

5TH SCRAMBLE FOR SYNGAP, SC – 166 days
Classic case of a small event becoming an institution!
cureSYNGAP1.org/Scramble26

PUBMED
Pubmed 2026 is at 26. +9 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

SOCIAL MATTERS
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$CAMP closed at $4.67 Friday.
https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10
Episode 205 of #Syngap10 #CureSYNGAP1 #Podcast

Below is a transcript from the video:

Mike Graglia

[ 00:00:00 ] Hello Syngap Land, my name is Michael Graglia. This is episode 205 of the Cure SYNGAP1 podcast. Today’s Monday, April 20th, 2026. We’re in week 17 of the year. Earlier this month… CURE SYNGAP1 signed on to a petition led by the Haystack Project. The Haystack Project is another rare disease advocacy group, much smaller than EveryLife, but also very important.

[ 00:00:22 ] We signed on to this petition…

[ 00:00:24 ] …to urge the FDA to be more scientific and more predictable in their rare disease approval. We weren’t asking them to approve everything. We were just saying, you guys need to… have rational decision-making. People need to know that if they come and do X, Y, and Z, they can, if the data is good, get an approval. And by the way, you’re still making us do placebo-controlled things with these super small populations and the science and the statistics are at a point where that’s not really necessary. So maybe we can make better rules. And if you made better rules and you were more predictable, most importantly, rare disease investors and biotechs would more likely spend more money going after rare disease because the lack… of certainty is creating risk that translates directly into less dollars going into rare disease clinical trials. That’s why we’re so lucky to have CAMP4 right now working on the SYNGAP ASO. So anyway, the press release from Haystack and the actual petition signed by CURE SYNGAP1 and many others is available on the Project Haystack website, or Haystack Project, and those links are in the show notes.

[ 00:01:27 ] There’s an article from Reuters in the show notes, and there’s a detailed analysis from Pink Sheet if you’re curious in the show notes.

[ 00:01:33 ] If you’re like, “Yeah, that makes sense, I want to show my support”. You can do that. The FDA has opened a docket based on this petition, which is a chance for the public to comment. Links in the show notes. You can click on that link. You can start commenting. If you’re like, “I don’t know what to say,” I have a handy dandy guide in the show notes. Paragraph one, tell them about you, your kid, and SYNGAP. Paragraph two, explain to them that seizures aren’t always easy to count, but behaviors, sleep, and other things you know—insert your story here—are real serious burdens and maybe we could count those you know and then these would be clinically meaningful points. And if we could design studies based on those, it would really, really help. And SYNGAP is complicated, and we wish the FDA would just talk to more disease experts. Finally, you know, and then I gave you some closing language. Please consider making a comment on this petition. Consider telling the FDA that you are desperate for therapeutics for SYNGAP1 and that them taking this petition seriously would be helpful. All right, that’s the news you can use today. In exciting news, we put out a press release.

[ 00:02:34 ] Press release 45 and then the necessary associated LinkedIn post about changes to our board of directors. This is seriously cool stuff, you guys. A couple of the OGs, myself, Peter Halliburton, Aaron Harding, have stepped off the board because we have term limits. A lot of new people have come to the board.

[ 00:02:54 ] Click on the LinkedIn note to see all these people, and of course, some people have stayed on the board. It’s so important that we have turnover on the board. It’s so because you don’t want CURE SYNGAP1 to just become a couple of the people who were diagnosed at the same time—running this group forever and ever. That’s not what this is, right. We want our board to reflect our ever-changing patient community. And we want the voices and needs of the newly diagnosed parents in there. So when a family is willing to raise their hand and say, “Yeah, I can raise $10,000, $15,000 a year. Yeah, I want to be a part of this. I want to be in charge at CURE SYNGAP1,” we welcome them in. We stick them on the board. Guess what? They get to go to a lot of board meetings, see a lot of interesting information and see what’s going on and understand how complicated this work is. And that’s really great because we now have board alums running around the community. And if you have any questions, concerns, doubts, or excitement, and you want to get involved, just reach out to an old board member. They have seen it all. So that’s pretty exciting. Thank you to everybody who’s come, who’s gone, who’s staying. It’s wonderful to see CURE SYNGAP1 continue to grow with this dynamic board.

[ 00:03:59 ] Quick reminder about ICD-10 codes. Our ICD-10 code is F78.A1. F78.A1. I’ve talked about ICD-10 codes a lot, but the punchline is: if your kid has SYNGAP1, you need to, when you’re seeing your pediatrician, when you’re seeing your neurologist, when you’re seeing any clinician, especially anyone who’s entering a bill, make sure they add your ICD-10 code F78.A1, which of course is going to be in the show notes, to your record. Why does this matter? It matters because this is one of the ways that companies find patients and check the math on incidence.

[ 00:04:36 ] And ICD-10 codes, although they are so important, and I have many, many friends working crazy hard to get them out of the CDC. We pulled this off five years ago through the incredible hard work of Hans Schlecht and myself and a few others and a great lawyer, because at the end of the day, we had to basically threaten to sue the FDA to get this code. But we’ve got the code and we now have five… CDC, FDA, whatever. We now have five years of data in there. But ICD-10 codes are chronically underused. And I share in the show notes a paper that demonstrates this with data. And what we really need to do is make sure that every patient is saying to their clinician, hey, is my ICD-10 code in there? Here’s a way you can check that. Log into Ciitizen.health, and then you can say, hey, is F78.A1 in my ICD-10 codes? You can also ask the Ciitizen chatbot, give me a list of all my kids’ ICD-10 codes. That’s always sobering. Hey, speaking of Ciitizen, what’s Ciitizen? What’s the difference between Ciitizen and Combined Brain and PROMMIS and Rare-X? What’s going on? We’re talking about how complicated it could be if you were a new parent today and you’re like, what is going on?

[ 00:05:37 ] So I thought I’d make a handy dandy list of… studies that everybody should be a part of. Study number one, Ciitizen Health. If you have not signed up for Ciitizen Health, it just doesn’t make sense, guys. Go to Ciitizen Health or go to the link in the show notes, ciitizen.health/syngap1

[ 00:05:54 ] …and or something else. Links in the show notes. And the punchline is they will collect your medical records. They will update your medical records in one place. They will give you the chance to share your anonymized, so de-identified names aren’t in there, data back to our industry partners to better understand the disease.

[ 00:06:14 ] And it will give you a dashboard and an AI advocate that can read your medical records and help you. It is such a powerful tool. We have a partnership with it. It’s totally free for families. Indeed, some families get money if your data ends up being shared with industry. So it’s a win for everybody. Combined Brain is the second thing we should all be thinking about. Combined Brain is a partner umbrella group that we are a part of. I work very closely with them. They’re exceptional. And they have a biorepository, which is a big, fancy, scientific refrigerator somewhere. Run by a lot of PhDs and MDs. Who collect and track biosamples so that, when a researcher or a company wants a plasma or wants blood or wants something, we don’t have to go and poke a kid every single time. We’re like, no, no, we got a fridge full of that. Here’s a link. Order here. It’ll be shipped to you. There’s all these rules and regs and material transfer agreements and institutional review boards. Other things and consents. It’s really heady stuff, guys, and it’s not something we have the bandwidth to do ourselves. So we’re really lucky to have Combined Brain. Not only does Combined Brain handle that side of the work, they also have a roadshow that goes around the country.

[ 00:07:16 ] Links in the show notes. And coming up May 1st and 2nd in Menlo Park / Palo Alto. There will be a roadshow, so a chance for you to collect. So for all my Californians, my Northern Californians, for anyone visiting San Francisco with their Syngapian, come and give blood, please. It would be great. So number one, Ciitizen Health. Number two, Combined Brain—either here in Northern California or at one of the other sites. Some point in the future, links in the show notes. Check it out, including our conference. Number three, PROMMIS—our natural history study. Everybody should be going to a PROMMIS site. We have them at Stanford, Colorado, and Children’s Hospital of Philadelphia. Please go and take that clinical visit. Not only are you contributing to a super important study that is helping us accelerate clinical trials—clinical trials are coming, guys, it’s on. Um, but you’re also getting world-class clinical care from doctors who know what SYNGAP looks like because they’re helping literally to write the book. Um, if you do PROMMIS you need to do Rare-X and you need to do Rare-X the same week. PROMMIS is where a clinician looks at you and writes stuff down. Rare-X is where you do PROs, patient reported outcomes. It’s where you look at you and your kid and you write stuff down.

[ 00:08:17 ] And those have to be contemporaneous. They have to be the same week. So please, when you do your PROMMIS visit, make sure you do Rare-X. I’ve mentioned DSC and Cooks before. They’re coming soon. Stay tuned. I’m also going to mention something new, CURE ID. If you are using… a repurposed drug, for example, Ravicti or Tanganil or something else, and you have really positive or really negative findings, CURE ID is a place where you or your clinician, you or your clinician—so if they don’t want to do it, you can do it—can go and write a little case report and that gets published. It’s a really exciting tool and we would love to see it used. It’s so exciting. We’re going to do a webinar about it. It’s an incredible… Professional at NCATS, Dr. Heather Stone, who’s agreed to give us her time on Thursday, May 7th. Um, curesyngap1.org/cureid to sign up. Please join us. All right, I got a minute left. Hey, it’s Sprint for Syngap in five days. We’re already at $200,000. Thank you to the Tavilla’s for being the bulk of that. Last year, 17 teams raised $265,000. This year we have 20-plus teams. And we’re already at 207, so hopefully we can get past that 265 number.

[ 00:09:22 ] Links in the show notes. Thank you, Rifton, for the donation of the tricycle. That will be raffled off to a team. We also sent out an email today. Links in the show notes. The San Francisco Night of Impact is in 38 days. If you’re in the Bay Area or you can come please, please join us, curesyngap1.org/sf26.

[ 00:09:38 ] The fifth Scramble for Syngap is in about 166 days. That is in… South Carolina, it’s going to be amazing. It turned into a really beautiful event. I got 10 seconds. PubMed’s at 26. That’s plus nine. Compared to the week, that’s great. That means we’re on track to beat next year. Follow us on LinkedIn. Thanks for listening.