CureSYNGAP1
CureSYNGAP1
Donate

#RareDiseaseWeek! We are doing much beyond grants… too much. Get the Citizen Health App! #S10e200

Wednesday, February 25, 2026 – Week 9

Thank you Virginie, Eric, & Paulina for being in Cold DC right now with the Everylife Foundation! https://www.linkedin.com/posts/curesyngap1_raredc2026-syngap1-curesyngap1-activity-7432425642295586816-IVDQ

NATURAL HISTORY STUDY
Sign up for Citizen Health cureSYNGAP1.org/Citizen and ProMMiS cureSYNGAP1.org/ProMMiS
And now the Citizen Health App on iOS   https://www.linkedin.com/posts/graglia_your-advocate-is-now-with-you-in-every-moment-activity-7432260543748579328–dva

Board meeting… key message, we are much more than fundraising, grants and patient support. Here is our list of non-grant projects:

BIOSAMPLES & EEGs!
Biorepository needs more samples. Check out the list and map here https://combinedbrain.org/roadshow/ and contribute both blood & EEGs. The data and research we do with these samples is invaluable. Let us know if you are going, email our CSO@curesyngap1.org

FUNDRAISING – SPRINT FOR SYNGAP
Sprint is April 25 – our calendar page – cureSYNGAP1.org/Sprint – has all the information in the following links:

Night of Impact, May 28 in San Francisco, CA: cureSYNGAP1.org/SF26
Scramble for Syngap – 5th annual on October 3 in S. Carolina cureSYNGAP1.org/Scramble26

PUBMED
Pubmed 2026 is at 9, just like last week but am I seeing some amazing manuscripts! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date (Remember we had 18 in all of ‘18)

SOCIAL MATTERS
4,700 LinkedIn. https://www.linkedin.com/company/cureSYNGAP1/
1,530 YouTube. https://www.youtube.com/@cureSYNGAP1/
11.2k Twitter https://twitter.com/cureSYNGAP1/
45k Insta https://www.instagram.com/cureSYNGAP1/

$CAMP stock is at $4.70 on 24 Feb. ‘26 https://www.google.com/finance/

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/
Episode 200 of #Syngap10 #CureSYNGAP1 #Podcast

Below is a transcript from the video:

Mike Graglia

Hello Syngapland, my name is Mike Graglia and this is episode 200. Episode 200, can you believe it? We’ve been at this for years. Episode 200 of the CURE SYNGAP1 podcast. Today is Wednesday, February 25th. We are in week nine of the year 2026. As we speak, it is Rare Disease Week, which means the EveryLife Foundation is doing incredible work in Washington, D.C. Your child and our community of CURE SYNGAP1 USA is being represented by Virginie McNamar, our president and COO, and Paulina Polanco, who is helping us with patient engagement and Hispanic community engagement. Thank you both to Paulina and Virginie for leaving your families, flying to D.C., and braving the cold this week. We are grateful you are there.

I also want to say before I get into my main event today that natural history studies are always available to you. The Retrospective Citizen Study is there and you should sign up. I’ve talked about this before. The Prospective PROMMIS Study at Stanford, Colorado, and CHOP is there for you. This is your invitation. Sign up now. You’re crazy not to. Here’s the great news. Here’s the new news. If you have an iPhone, um, the Citizen team has put out an app on your iPhone, an actual app that you can use to do everything from take notes and recordings in clinic visits to talk to the AI agent, see and add your medical records. Amazing. Great job, Citizen Team. Links in the show notes to my LinkedIn post about this. Incredible. Here’s what I want to talk to you about today.

I said in the last episode that the team was flat out and we just had a board meeting on Sunday night. These board meetings, man, they get long. And the board was like, “Well, what’s going on, Mike? Why are you guys so busy? Like, what’s changed?” This is a really good question. And the answer is, you know, in the early days, we did three things. We did fundraising, patient support, and giving grants to scientists. Please help us understand SYNGAP1. The world’s gotten a lot more complicated. The world’s gotten a lot more complicated. We understand, we’re still finding cool stuff. We’re still funding exceptional science. And we’re getting really great value for money. But we no longer think about the world in terms of fundraising, supporting patients, and grants, right? That used to be it. We spent a little bit of money on fundraising. We spent a little bit of money on supporting patients. And we spent a lot of money on grants.

Now it’s getting complicated. And I just want to give you my prioritized lists of non-grant things that we need to think about and spend money on, because I want you, as the community, to understand what we’re doing on behalf of all of our children, but also all the different ways and demands on the staff. And if you hear something where you’re like, “Wait, I’ve got skills that relate to that, or that’s super interesting,” I want to be a part of that. Again, this is your invitation. Please do not wait for a handwritten invitation. We don’t have time to send you one. This right here is your invitation to come and get involved in this list of my top 11 priorities today. Tomorrow, there’ll be a new one. I guarantee it. But today, here’s what we got.

Number one, fundraising. None of this works without fundraising. Fundraising is a ton of work. Fundraising is a ton of work. And we need more hands to help. We’re excited about that. Fundraising team’s here for you. The second priority is regulatory as it relates to industry, right? So we have a number of industry partners who are asking us to come to regulatory meetings, the regulatory landscape, meaning what’s going on at the FDA, because I’m confining this to the US right now, is a little bonkers, right? So tracking the news at the FDA, understanding what different industry players are asking us to say to the FDA, preparing for those meetings, going to those meetings—will probably be me and Virginie going to the meetings—but like helping to coordinate and think about FDA engagement is a massive lift. And we have one volunteer who I’ve spoken to a little bit about this. We can always use more help. Coordinating with industry and making sure that what we say to the FDA is something that we’re comfortable saying again and again. But also that jives with our industry partners. Because everybody, remember, regulatory is… next challenge, right? We’ve got the science down. We’re designing the clinical trials, which I’ll get to in a second, but getting the regulators to understand our disease and to help us explain the data and get these drugs approved is the next major challenge.

And then there’s our own relationship with FDA. We need to get in front of the FDA just as CURE SYNGAP1, not just, but as CURE SYNGAP1. And share some messages that are universal and aren’t related to our industry partners. That’s another chunk of work. Of course, they’re related, but I think of them as two different work streams because one of them is, they both require a lot of nuance and attention to detail. The next is clinical trial readiness. So we are still working on and designing clinical trials with our PIs from PROMMIS and our industry partners, again, who are talking to regulators. And we’re trying to figure out, are we Dravet-like? Are we Angelman-like? What should we measure? Should we design a trial? This is heavy lifting guys and this requires people with clinical expertise so if you’re a clinician of any type and you want to be more closely intimately involved with this clinical trial readiness, now is the time to make us your number one volunteer opportunity.

Number five is standard of care. We do not yet have a standard of care. We do not have—have a published document signed off on by a bunch of clinicians that say Syngapians should receive overnight EEGs every six to 12 months at a minimum. Syngapians should get these drugs first and these drugs we know work and et cetera, et cetera, et cetera. Syngapians should be checked for strabismus. Syngapian constipation should be taken seriously. I can go on and on and on, but these are serious, serious issues that we don’t really have a consensus document on, and we need to urge our clinicians to get together and put out a standard of care. There’s a number of reasons for this, but it’s a huge and growing need as our community gets bigger and bulkier and more complicated.

Patient engagement. We’ve been doing this for years. We are working hard on our systems right now. When it’s time to recruit patients for trials, we do not want industry paying someone who doesn’t know any of our people to go and recruit our people. We want industry to partner with us and we want industry to let CURE SYNGAP1 recruit patients for their trials because we know our patients better, because we’re going to do a better job of explaining and we’ll do a better job of saying back to industry before we start recruiting—have you thought about this? Have you thought about this? Are you taking care of our patients? So, so getting ready for patient engagement, making sure we have the staff, with Lauren and Paulina in place to connect with patients, is something we are prioritizing. And that is priority six, because those other five things feel like fire drills to me.

The next one is health economics. You’re like, health economics? What are you talking about? Well, guess what, guys? Once we start the clinical trials, once we get through regulators, then we’re going to have an approved drug that can help our patients. We’re all going to be desperate for it. And Medicare, Medicaid, and insurance companies are going to be like, “You sing what? How much money? You want us to pay what?” And we’re going to have to come to them with publications that explain the cost of having a Syngapian, that explain the hard cost we spend on hospital visits and what insurance is already paying and the soft costs. Guess what? One of our parents had to quit their job. We can’t work as hard. We can’t travel as much. We don’t get promoted. Like the lost income, all the things. That paper, I’ve been working on it today. Best case scenario, we start, we hire the right person tomorrow. We are two years from publication. Two years from publication. Like, if we move really fast, we will have this in December 2027. And we need it by then. So we’ve got to start working on health economics.

Global coordination is another thing. I want to take my hat off to Virginie and Jaime from CURE SYNGAP1 USA who work closely with SGN and with our international partners to try to build alignment and consensus in the international community. Why? Because trials are international and you do not want to spend our precious minutes on the phone with industry explaining, “Well, there’s this German group, there’s a Spanish group, and there’s this UK group, and we’re all kind of different and we’re all the same.” No, that’s crazy. We are all one unified community. Give us a message. We will share it amongst ourselves. We will coordinate as much as possible. Of course, every geography has their own governance and is ultimately in charge of themselves. But we are one Syngap family and we are working together and you industry should work with us. That’s our message. And building that kind of community and coordination is something that, thank God I’m not in charge of, but Virginie and Jaime are doing a great job.

And then there’s priority nine: next steps with NALL. As you know, we’ve identified this drug. It helps our kids. A company is working on it. So we have to tread carefully here. But if there’s a chance to bring this drug to our kids, we need to do it. That is not a cheap endeavor. Drug repurposing is almost more complicated than finding a new drug. And, um, we’re working hard on that. So again, if you’re interested, raise your hands. Patient support. Patient engagement is letting you know what’s going on, working with you, educating you. Patient support is every week. I have a different one or two or three families that are on my list that are in some level of crisis that we’re tracking, that we’re supporting, that we’re offering support to. It’s always very delicate. But this is also work that we need to continue because we are a community. And as you know, this disease drives families into crisis regularly.

And then there’s next steps with Nortriptyline, which is a little simpler because we’ve basically given a grant for that. I want to wrap this up. So that’s our list. If you want to help with any of those things, let us know. Sign up now. Biosamples and EEGs, I talked about it. I’m going to keep talking about it. Check out the Roadshow link if you’re near a Roadshow. Go get an EEG, give a biosample. Fundraising is ongoing. Please take part in Sprint for Syngap. We need the money. We are having a big event in San Francisco on May 28th. If you’re looking for any… excuse to come to San Francisco, this is it. Similarly, South Carolina, October 3rd. PubMed is still at nine publications, but I got to tell you, this week I’ve seen some incredible manuscripts, so I’m excited. Social media still matters. Make sure you and your friends are following us on LinkedIn and elsewhere. Gap for Stock is up to $4.70. Woo-hoo! This has been episode 200. Buckle up. The next 200 are going to be even better.