Wednesday, May 6, 2026 – Week 19
Congrats to GETA, CURE SYNGAP1 Australia & CAMP4 for a great weekend. https://www.linkedin.com/posts/syngap1-epilepsy-ugcPost-7457791427486466048-j8SB
WEBINARS!
CURE-ID Webinar tomorrow! Register now. Thu May 7, 2026 1:30pm – 3pm (PDT) https://curesyngap1.org/calendar/webinar-124-cure-id-registry-of-repurposed-drugs-syngap1/
Next week, especially NY families, while you are registering, please make sure to go to this one with Dr. Buxbaum from Mt. Sinai. curesyngap1.org/seaver https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-rarediseaseresearch-activity-7457507565527044096-dDEK
Longitudinal Data Matters – Every six months or more!
Study list!
1. CURE SYNGAP1 CONNECT https://curesyngap1.org/curesyngap1connect/
2. Citizen Health https://www.citizen.health/ai-advocate/syngap1
3. Combined Brain
4. ProMMiS https://www.linkedin.com/feed/update/urn:li:activity:7450196488300728320 & Rare-X, the same week.
5. OR DSC. #S10e
6. CURE-ID for Drug responses. Webinar: Thu May 7, 2026 1:30pm – 3pm (PDT) https://curesyngap1.org/calendar/webinar-124-cure-id-registry-of-repurposed-drugs-syngap1/
6th ANNUAL SPRINT FOR SYNGAP1, we raised over $300k! (Gross)
Thank you Tavillas for raising over $170k this will go to the Missense fund. We spent over $250K on missense last year.
Thank you Emily Barnes for hosting a New England event for families. https://www.linkedin.com/posts/ecarlisle_we-had-an-incredible-sprint-for-syngap-ugcPost-7457845816502845440-nJCd
Thank you to Sara and Sarah for the Virginia event. GREAT WORK. https://www.linkedin.com/posts/sarah-sakly-648544337_syngap1-raredisease-curesyngap1-ugcPost-7456869206341464065-VESz
Thank your Rifton for the donation of the tricycle. Congratulations Matthew! https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-sprint4syngap-activity-7457806850676281344–JR-
Thank you to the Edouard Family! cureSYNGAP1.org/Crafts26
https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-craftsforacure-activity-7457211260242411520-ekPz
INAUGURAL SF NIGHT OF IMPACT, CA – 22 days
Join us this is our only Gala for 2026! cureSYNGAP1.org/SF26
5TH SCRAMBLE FOR SYNGAP, SC – 150 days
Classic case of a small event becoming an institution!
cureSYNGAP1.org/Scramble26
USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142
PUBMED
Pubmed 2026 is at 27. +10 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date
SOCIAL MATTERS
4,931 LinkedIn. https://www.linkedin.com/company/cureSYNGAP1/
1.56k YouTube. https://www.youtube.com/@cureSYNGAP1/
11.1k Twitter https://twitter.com/cureSYNGAP1/
45k Insta https://www.instagram.com/cureSYNGAP1/
$CAMP closed at $3.97 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 206 of #Syngap10 #CureSYNGAP1 #Podcast
Below is a transcript from the video:
[ 00:00:00 ] Hello Syngap Land, my name is Michael Graglia. This is episode 206 of the CURE SYNGAP1 podcast. Today is Wednesday, May 6th. We are in week 19 of the year 2026. This weekend, there was a series of epic gatherings in Australia. The GETA conference happened. It’s the Genetic Epilepsy Therapy something. And CURE SYNGAP1 had a Syngap1 symposium and Camp 4 was there talking to the community for, I think, the third time this year. So that tells you a lot about coming trials and what countries, you know, may or may not.
[ 00:00:33 ] Beware, Camp 4 starts dosing people with their ASO. But that’s pretty exciting stuff that Camp 4 was there and talking to our community about it. Congratulations to Danny and Dan Williams for all of their incredible work leading that community. And congratulations to the epilepsy community of Australia. It’s just exciting to see these things happening.
[ 00:00:52 ] Here Stateside, we’ve got a couple webinars coming up. I want to make sure everyone’s aware of. There is the CureID webinar. CureID has made it to the list of the studies we are encouraging you to use. It’s basically a platform out of NIH.
[ 00:01:06 ] Allows anyone—doctors or patients—to report if they’ve had a positive or negative experience with a repurposed drug. A lot of our parents are struggling and trying a lot of different things. If you have a good experience, this is a platform to officially share your experience and report it out, so that others can reference it. It’s very exciting. The person in charge there is really exceptional; she’s very kind and she’s giving us a live webinar tomorrow. Please come if you can. It’s 1:30 to 3 Pacific time, so that’ll be 4:30 to 6 Eastern time.
Also a week later, next Thursday, so not tomorrow, but a week from tomorrow, Dr. Buxbaum from Mount Sinai will be giving a presentation about three studies where he wants to enroll Syngapians at Mount Sinai. So that’s pretty exciting. Um, I’m going to, I’m going to let him talk about it. Dr. Buxbaum is a real giant. He’s done a lot for Phelan-McDermid syndrome.
[ 00:01:57 ] CureSyngap1.org/Seaver to register for that. I would especially encourage New York area families to go because you’ll be so close and that could be a great relationship. The thing I want to really talk about today is longitudinal data. Longitudinal data. So if you remember back in episode 205, I put out this list of studies. And then Virginie and Lauren and I really started talking as we were working on the impact report, which I need to finish, and we were like, “Okay, well, what studies exactly do we want people to do? Where and how?” And we went over it, and then we went over it, and then we went over it, and we updated things.
And one of the things that came out of that was the absolutely critical importance of longitudinal data, right? You guys, to um, go and take part in our natural history study, which is called “ProMMiS,” and we have asked you to put your blood into our biorepository through CombinedBrain. And that data from the Natural History Study and those blood samples are gold. But doing that every six months or every 12 months, that is platinum.
[ 00:02:59 ] Platinum is more valuable than gold, right? It’s even rarer. And we need—and that’s longitudinal data. Right. So.
[ 00:03:07 ] We want you to do the natural history study with ProMMiS. Right now, we want you to do it again in six months. If you can’t handle six months, at least 12 months. And then we want you to do it again in another 12 months. Why do we want that? Why is longitudinal data so important? Same answer for blood. If you gave us blood a year ago, thank you very much. That means that the blood you’re going to give us again a year later is even more valuable.
Why is this? Because remember, right now, the natural history study gives us the chance to learn as much as possible about our disease, to design appropriate clinical trials. But in the long run, right, we’re going to start dosing kids with Camp 4’s ASO this year. In three or four years, we’re going to say, “Hmm, let’s look at the kids that took the very first dose that have been on this drug for three or four years, and let’s see how their trajectory looks like. Hmm, looks like that. Okay. Well, what does a normal Syngapian look like after three or four years?” The only way we’re going to be able to answer that question is if we have clinical data through a natural history study and biosamples—blood—through our biorepository over an equal amount of time.
[ 00:04:08 ] Longitudinal data is so important because we are looking to an imminent future, a few years from now, when we’re going to be looking back and saying to FDA, “Look, not only did we meet whatever the endpoints were in the clinical trial, but actually after a few years of treatment, look at how these kids went up, whereas the natural history study would have us—the natural history of the disease would suggest that they should have gone down.” We can’t prove that without collecting this data year after year. So we really need you guys to help us build a longitudinal data set.
[ 00:04:44 ] With that in mind, let me give you the latest study list. Study number one: we need every single person to do CureSyngap1 Connect. You go to our webpage, CureSyngap1.org/connect. You fill it in. You tell us about yourself. That’s how we know where you are. That’s how we find you. That’s how we make sure we have the right address. If you’re not sure you’ve done it or you think you did it a while ago, just do it again. It takes two minutes. Please.
The next I need everyone to do is Ciitizen Health. Ciitizen Health is a tool that you can use. They have an AI agent in there. It’s very, very cool. And they go back and they hoover up all your medical records, totally HIPAA compliant. The lawyer at Ciitizen is the lawyer who helped design HIPAA when she was in the White House, right? Very exciting product, completely free for you. So sign up CureSyngap1 Connect. That’s one. Sign up Ciitizen Health. Get all your medical records in one place. Let us analyze them.
Next, CombinedBrain. Take part in the biorepository. Remember, there is a roadshow that goes all over the country. There’s a roadshow that goes all over the country. So someone somewhere is having a rare disease conference near you.
[ 00:05:46 ] Figure that out, go there, give a biosample for the patient and a family member. Those samples are so valuable. So that’s number three. Number four, do the ProMMiS Natural History Study. ProMMiS Natural History Study has sites at Children’s Philadelphia, Children’s Colorado, and Stanford right now. We’re working on expanding it, but we need to raise more money.
If you do ProMMiS, that is the clinical assessment. That is the clinician, the doctor, the OT, the PT, the psych, whatever, looking at you and your patients, making observations. We also need the patient-reported part. So the same week that you go to ProMMiS, the same week, you need to do patient-reported outcomes. Those are the surveys, the Vineland, the Bayley, all that stuff. You do that stuff on Rare-X. Rare-X and ProMMiS go together. They’re inseparable. Please don’t go to ProMMiS and be like, “Yeah, I did it. I’m done.” If you haven’t filled out those surveys, we have not been banging this drum hard enough. And as a result, we have not done enough surveys.
Now, I’ve also been talking a little bit about the DSC. I talked about this back in episode something. I don’t know what it is. I’ll put it in the show notes.
[ 00:06:46 ] We’ve had some questions from some of our smartest volunteers. People pay attention. They’re like, “What exactly is the DSC?” So I’m going to say this really clearly: Do not do the DSC if you are in ProMMiS. Do not do the DSC if you are in ProMMiS, because that would break the longitudinal data, right? If you’re already in ProMMiS, stay with ProMMiS. Keep the longitudinal data in there. If you can’t do ProMMiS or you haven’t done ProMMiS or ProMMiS is too far away or too inconvenient, then do DSC. There are more DSC sites in different places. There’s a DSC site in Alabama. There’s a DSC site in New York. I think Dr. Buxbaum actually is going to become a DSC site. There’s a DSC site in Texas. There’s a DSC site in Boston. So if you are not in ProMMiS, you can do DSC. If you are in ProMMiS, I’m begging you, do not switch to DSC. we need that longitudinal data in ProMMiS, okay? That’s all I’m going to say about that.
And then number six, CureID, which we have a webinar about tomorrow. If you have had experience with a drug, positive or negative, a supplement, whatever, let us know through CureID.
[ 00:07:44 ] So that’s my lecture complete for the day. I just want to focus now on great news. Sprint for Syngap is over. We’ve raised over $300,000. That’s gross, not net. The Tavillas, of course, brought in more than half of the $170,000. That family’s incredible. All that money is going to go to our missense research. Very happy to do it. We’ve spent over a quarter million dollars on missense last year. We’re going to spend just as much this year. Remember, we have to take care of every patient and the missense patients are a bit more complicated.
Thank you, Emily Barnes, for hosting a New England event for families. That was great. Thank you to Sarah and Sarah for kicking off a Virginia event. Amazing work. I put Sarah Sackley’s post in the show notes. Like it, comment on it. And thank you, Rifton, for the donation of a tricycle. Matthew won that. There’s a cute LinkedIn post. I don’t know who dreamt that up, but great work.
The Edward family, we’re like, “You know, we don’t want a new sprint for Syngap. We’re just going to do our own event. We’re going to do crafts.” That’s amazing. They raised $4,000. Links in the show notes. Thank you to the Edward family. Guys, every family needs to be raising money. These new families are looking around. They’re like, “Are we done yet?” I’m like, “Guys, get with it. We have been at this for eight years and we need every family to lean in and raise money.” Start planning your Sprint for Syngap event for next year now. We have so much work to do and work takes money.
[ 00:09:03 ] Speaking of fundraising, the inaugural San Francisco Night of Impact is in 22 days. I’m not freaked out. I’m just hosting it. If you’re in or around the Bay Area, please join us. Scramble for Syngap is in 150 days. We do have an ICD-10 code. Make sure you use it: F78.A1.
PubMed is at 27 publications, which is plus 10 on the year, which is better than how we ended last year, so that’s a great sign. I think we’re really killing it on PubMed. Social media matters—make sure you and your friends and your family and everybody else you want to learn about Syngap1 is following us on LinkedIn, YouTube, and all the things. Camp 4 closed at four dollars and this has been episode 206 of the CURE SYNGAP1 Podcast. Thank you all for listening and for supporting our critical work. There are so many exciting things ahead and there’s still work to do. So contribute to that longitudinal data. Sign up for Connect. Sign up for Ciitizen. Do the biorepository. Get in ProMMiS and Rare-X. And if you can’t…