Friday, April 3, 2026 – Week 14
Just back from the DSC-III Kickoff Meeting!
As announced back in September 2025. Really strong group of clinicians.
https://dsc.rarediseasesnetwork.org/patient-advocacy-groups
More on DSC in #S10e184 https://curesyngap1.org/podcasts/syngap10/dsc-rdcrn-ncats-nih-press-aav-in-cell-srf-at-cb-scramble-for-syngap1-s10e184/
We will have sites at SYNGAP1 established doctors, Dr. Wiltrout at Boston Children’s Hospital/Harvard, Dr. Holder at Baylor, and our very own ProMMiS Doctors: Knowles at Stanford / Dr. Abbott at Colorado. AND, excitingly, these two new locations:
- Rush University Medical Center (Rush) led by Dr. Dr. Liz Berry-Kravis.
- University of Alabama at Birmingham led by Dr. Martina Bebin.
Interestingly we are paired with PMS aka SHANK3 so the comparisons will naturally arise. Both post-synaptic, they are a half step ahead of us. (We will catch up!) SHANK3 and SYNGAP1 have lots in commons: PSD, Synaptic Plasticity, mTOR. Differences, we have more epilepsy, they have more Catatonia (see Table 2 in Trelles 2026 https://pubmed.ncbi.nlm.nih.gov/41895438/).
After that I met with Dr. Xin Tang from BCH who is working on some exciting potential therapies and then over to CAMP4, who is moving at light speed.
ILAE Rare Epilepsy Big Data Task Force for 4 years! Makes me think about data…
Where does SYNGAP1 Data Live?
- Citizen.Health Retrospective
- ProMMiS Clinical
- Rare-X PRO
- Now the DSC will have both
- COMBINEDBrain Registry and EEG Database.
- In Argentina SYNGAP1 Registry, potentially expanding to Chile and Colombia.
- In the EU there is PATRE part of EURAS.
- In the UK, it seems largely via NHS.
- In China, I don’t know but this paper shows us someone has 99 people: https://pubmed.ncbi.nlm.nih.gov/41914539/
- Where else?
SYNGAP1 is having a moment, we need project manager volunteers.
SPRINT FOR SYNGAP1, EVERYWHERE – 21 days – $132k!
Get on the map!
https://curesyngap1.org/calendar/sprint4syngap-2026
INAUGURAL SF NIGHT OF IMPACT, CA – 55 days
Join us this is our only Gala for 2026!
cureSYNGAP1.org/SF26
5TH SCRAMBLE FOR SYNGAP, SC – 183 days
Classic case of a small event becoming an institution!
cureSYNGAP1.org/Scramble26
PUBMED
Pubmed 2026 is at 22. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date
SOCIAL MATTERS
4,822 LinkedIn. https://www.linkedin.com/company/cureSYNGAP1/
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$CAMP closed at $4.47 today.
https://www.google.com/finance/beta/quote/CAMP:NASDAQ
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Episode 203 of #Syngap10 #CureSYNGAP1 #Podcast
Below is a transcript from the video:
Mike Graglia
[ 00:00:00 ] Hello, Syngap Land. My name is Mike Graglia. This is episode 203 of the Cure SYNGAP1 podcast. Today is Friday, April 3rd, the 14th week of the year, 2026. A busy week for me. I went to Boston for a couple days to attend the kickoff meeting for DSC3. DSC is the Developmental and Synoptopathies Consortium and is part of the Rare Disease Research Clinical Network. The R-D-C-R-N, the Clinical Research Network. I said that backwards. Anyway, which is funded by NCATS, which is part of NIH. And it’s a very important effort that has been afoot for 10 years and has been renewed for five more years, and we’ve come into it. I talked a lot about this when… Our inclusion was announced back in episode 184. Links in the show notes. Go listen to episode 184. But what you need to know about this is that It’s a strong group of clinicians who’ve been doing clinical research, right? As opposed to like bench research. So clinical research. What do the humans do? How do the humans look like? How do we measure the humans? Can we get the humans through in a clinical trial? And this was done with three diseases. P10.
[ 00:01:02 ] SHANK3, also known as Phelan-McDermott syndrome.
[ 00:01:06 ] And TSC to be, uh, Tubers. I’m not going to get into it. TSC is 52 years old, right? P10 is a newish disease. SHANK3 is kind of like us. But these three diseases were kind of like three very different rare diseases. And in this third round, what they’ve done is they’ve tucked us in right next to SHANK3, which makes sense. SHANK3 is in the postsynaptic density. We’re in the postsynaptic density.
[ 00:01:32 ] SHANK3S affects synaptic plasticity. We affect synaptic plasticity. We both affect mTOR. We both affect a lot of structural things. Differences, we have more… epilepsy. They have more catatonia. By the way, there’s a great paper by Pilar Trelles, links in the show notes, looking at catatonia in different conditions. And you can see there that how well documented it is in catatonia and the fact we only have two cases in SYNGAP and the question has to be asked: do we only have two cases in SYNGAP because it’s super rare in SYNGAP, or do we only have two cases in SYNGAP because we’re chronically underdiagnosing this? But Dr. Trelles and many other doctors are also part of the Developmental Synaptopathies Consortium. So the reason I’m excited about this… Well, there’s two big reasons I’m excited about. The first big reason: It’s another natural history study, and it’s at a lot of places where Syngapians already go. We already go to Boston Children’s Hospital to see Dr. Wiltrout. Some of us go to Baylor and see Dr. Holder. We already go and see Dr. Knowles at Stanford and Dr. Abbott at Colorado. These four clinicians are part of the Developmental Synaptopathies Consortium.
[ 00:02:35 ] So now, when you see them, they can enroll you in DSC. You can fill out some questionnaires and your data can be in the DSC. That’s exciting. What’s even more exciting to me is we’re adding two new clinicians to the Cure Syngap1 family, both of whom are very senior. Very well respected, which and what does it matter if they’re senior and well respected? So we get to feel important. No, it matters because. That means that the people training under them are going to have promising careers and will go far. And it means that these are people who, in their institutions, say, ‘I want to see the Syngapians.’ They’re going to see the Syngapians. And these people are real thought leaders. So we have Dr. Lisberry Kravis. It was just… freaking rock star in the rare disease world. There’s a lot of ASOs being dosed at Rush under her leadership. And then also Dr. Martina Bebin at University of Alabama at Birmingham.
[ 00:03:24 ] She is great. So we have these incredible doctors now who are all working together to collect data through the DSC, and I’m thrilled. And I think a lot of natural comparisons will come. Uh, um, looking at us compared to SHANK3. And that’s good because SHANK3, also known as Phelan-McDermott syndrome, has been around for a long time. So I’m just super excited about that. I think it’s a win for SYNGAP. In a few months after IRBs and contracts and all the minutiae is sorted out, these sites will start recruiting. We will start calling you if you’re near these sites and urge you to go. Um, and you might be like, well, which one is better? PROMMIS or this? They’re both good. They’re both good. They both give you a chance to talk to doctors who are world-class and are working with other clinicians and comparing notes and building knowledge about SYNGAP1. So, and I think what I’m excited about is, and who we’re going to call first is patients who might not have done PROMIS. Maybe you just didn’t want to do it. Maybe you’ve just got a kid where you can’t imagine getting on a plane.
[ 00:04:26, ] And now if you’re near Alabama or if you’re near Chicago for Rush or if you’re near any of these other sites, maybe you can go and see people under the DSC and we can get more data on kids that we haven’t included in PROMMIS. So that just felt like a win. Go listen to 184. I explain in there how we’ve been working on getting into this for years. Um, the kickoff meeting was really special and I’m so grateful that we’re included in that. I was excited before I went. As you can see in episode 184. But coming back from that, meeting some of the people on the various teams, I was just like, wow, this is going to be a long-term win for SYNGAP. Since I was in Boston, I squeezed in a couple other meetings before I jumped on a very long flight home. I met with Dr. Shin Tang from BCH, who’s working on some potential therapies.
[ 00:05:13 ] Great work happening in that lab. Really looking forward to see where that goes. And then I went over to Camp4, who, you know, as I’ve said before, is just moving at light speed. So, you know, excited to see what comes from them this year. This year it’s going to be— it’s going to be an amazing year, guys. And today I I was at a kickoff meeting for the ILAE Rare Epilepsy Big Data Task Force, which apparently I am on.
[ 00:05:42 ] I said yes at some point. And I’ll be on it for the next four years. And ILAE is the International League Against Epilepsy.
[ 00:05:49 ] It’s global.
[ 00:05:52 ] Global Epilepsy Organization, a lot of important clinicians, and I think… The fact we have a task force on big data is actually a real win. It’s a real win because we got data everywhere, guys, and getting it in the same place is a headache. This is, first of all, I want to be clear. This is a champagne problem, right? We have worked hard to get data everywhere. But now we’ve got data everywhere. We need to think about… Where it is and how we’re gonna make it work together. So, for instance, Ciitizen health retrospective in the US, we’ve got over 200 patients, I think the number’s like 229.
[ 00:06:26 ] PROMMIS? We have less than 200 patients, but more than 150. I don’t have the numbers off the top of my head. That’s clinical data collected by the doctors. RARE-X we have patient-reported outcomes. Associated with PROMMIS. Now the DSC is going to collect data on 50 patients, rich clinical data in a super well-respected repository, including EEGs. CombinedBrain has data on our patients, both from surveys from IPSCs and their collecting EEGs.
[ 00:06:55 ] In Argentina, there’s a Latin American registry right now with Argentines, but they’re looking at adding Chile and Colombia. In the EU, there’s PATRE, which is part of EURAS. Now, they’re kind of obsessed with GDPR, so the data there is going to be… highly de-identified and aggregated, but it’s another data set.
[ 00:07:14 ] In the UK, my understanding is data is mainly at the NHS. There might be something at Patrick Wild. I’m not sure. I’m still figuring that out. In China, I have no idea what’s going on in China, but there was a paper that just came out this week where somebody looked at 99 Syngapians. So someone’s got 99 Syngapians in the same database there. The paper’s linked. I don’t even know who I’ve missed. If I’ve missed someone who belongs on that list, tell me. But that is 1, 2, 3, 4, 5, 6, 7, 8, 9 different sources of data on Syngapians around the world. But we should get those all together and study them. Yeah, you’re dreaming. The de-identification, the data sharing, this stuff gets… incredibly complex and it’s another reason why we are so lucky. to have Cure Syngap1 and other effective patient advocacy groups working together and engaging with researchers and saying, ‘Let’s make this, let’s make all this data work together for the benefit of the patients Um, It’s a really big deal, and it’s something we’re going to have to keep working on. And that’s kind of where I’m going to just make my regular plea for volunteers.
[ 00:08:19 ] Just keeping track of all those data sets and understanding how we’re going to aggregate them or make them work together or leverage each other is a project. Each of those individual data sets, Ciitizen PROMMIS, DSC CombinedBrain, Argentina, etc is also a project. Hey, what’s going on? How many data sets do you have? How can we help? Do you need more help? Recruiting, you know. Have you thought about sharing this or working with so-and-so on such-and-such? Those are all projects that need doing. So it’s, it’s, it’s kind of like—um— not take this call. It’s kind of… A great opportunity for you to raise your hand and say, ‘Hey, I…’ at CURE SYNGAP1 sounds really busy. How can I help? And that’s my invitation to you. When you hear about all these things we’ve been working on for years. And the work remains. If you’re like, you know, Mike, I can’t give you guys two hours a week or whatever, but I can give you— one to three hours a month, one to five hours a month, and I want to project manage something and I want to be involved in keeping track of A, B, or C. You’re welcome. Please call us. Please let us know we need help keeping track of all these things, especially if you have a fondness for data. I’m going to wrap up by reminding you: Sprint for SYNGAP is in 21 days.
[ 00:09:33 ] We’ve already raised $130,000. Great job. Night of Impact here in San Francisco is in 55 days. Scramble for SYNGAP is in 183 days. PubMed is at 22, pretty good compared to us being in week 14. Social media, LinkedIn’s at 4,822. Make sure you’re following us, tell your friends, and Camp4 closed at 447. Thank you very much for being a part of CURE SYNGAP1. Stay in touch. See you soon.