SYNGAP1-related disorders (SRD) Key Talking Points & why we need to use them. #S10e195
Saturday, January 10, 2026 – Week 2
Here are key talking points to reference when talking about SRD. Please let us know your thoughts about how these could be better. https://docs.google.com/document/d/1lXaDQEVwF1K_yAU-RicaJibxb8xoJtldSvnVgopwu00/edit?tab=t.0
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Episode 195 of #Syngap10 #CureSYNGAP1 #Podcast
Below is a transcript from the video:
Mike Graglia
Hello, Syngap Land. My name is Mike Graglia, and this is episode 195 of the CURE SYNGAP1 podcast. This episode is entirely dedicated to the SYNGAP1-related disorder, SRD, key talking points. It’s important we have these key talking points available to the community so that everyone from a board member speaking at a fundraiser to a parent speaking at their community, their parish, their church, their company, whatever, to a sibling talking in a class in middle school, high school, college, wherever they are, can speak about this disease and understand that they’re saying the right things, because it’s a very complicated disease. So these talking points have some citations in them, so you can be confident that what you’re saying is backed up by research. But it’s also important that we’re on the same page here, because, as we speak, companies like CAMP4 are speaking to regulators in different geographies, right— in Europe, in the UK, in America— about clinical trials. And we’re attempting to get regulators in different geographies to come to the same understanding. About our disease. And then to approve things in the way the trials are run. So it’s really important that we, I can’t say really, I’m sure I say important way too many times in this podcast, but it’s critical that we’re, we the patients are using the same words and understand what we’re talking about. So I just want to share these talking points. It’s not last and final. Give us your feedback. Let us know what resonates. Let us know what doesn’t work. Let us know what terrible thing you think we’ve missed, and if we think it’s the right level, we will incorporate them, and then I’ll redo this podcast. But going forward, we need to have talking points available to the general public, so anyone, anywhere who decides they’re going to start talking about syngap understands what we think are the most salient points to share. Here we go. First, I’m going to read it, then I’m going to emphasize some things. Five points. Point one. Clinical definition. SYNGAP1-related disorder is an ultra-rare genetic condition. It is a devastating developmental and epileptic encephalopathy, DEE, not just a neurodevelopmental disorder, NDD. In a DEE, the constant epileptic activity itself worsens the developmental outcome. Biological root cause. Spontaneous mutation. It is caused by a de novo spontaneous mutation. In the SYNGAP1 gene, meaning it is usually almost always, actually, but usually not inherited from the parent. Protein deficiency. The mutation prevents the brain from producing enough of the Syngap protein. The deficiency causes the brain’s wiring synapses to malfunction, leading to a breakdown in communication between neurons, resulting in deficits in learning and memory. Life-altering impact. SRD is a lifelong diagnosis with complex progression, worsening symptoms. Both the epilepsy, often refractory, drug-resistant seizures, and autism tend to become more pronounced or severe over the first 20 years of life. Core challenge, severe intellectual disability is a foundational part of the disorder. Many patients do not get past the intellect of a two-year-old, and they are nonverbal. Four. Daily Reality and Family Toll. Fix a word here. Beyond the medical headlines, the 24-7 reality is extreme. Burden. Patients, families face aggressive behaviors. Profound sleep disturbances, chronic GI challenges, and motor delays. Family toll. The strain on marriages, parents, and siblings is almost impossible. To explain. Families live in a constant state of high alert, caregiving, disrupted sleep, and spontaneous aggression that impacts every facet of their lives while, coordinating complex medical care and providing for their families. Durations, syngap patients live long lives, outliving their parents. creates a stress on families who fear for the future of their loved ones, but need to prepare for it. Hope. CURE SYNGAP1 in CAMP4 in 2026. We are at a turning point in the history of the disease, and there is every reason to hope. CURE SYNGAP1. There is a global, patient-funded, patient-led advocacy group for this disease. It is the connective tissue between science, clinical research, industry, and families. They have funded over 8. 5 million by the end of 2025. They are the support system that families rely on while they prepare for clinical trials. Precision therapy. Several companies are now working on treatments that target the root cause, the protein deficiency itself. CAMP4 Therapeutics is currently the furthest along. They are in toxicology studies and aim to begin human clinical trials. Late 2026, that is, this year. Closing. For the first time since the gene was shown to be disease-causing in humans, which was 2009, only 17 short years ago. We aren’t just hoping for better seizure behavior, sleep, and GI meds. We are on the doorstep of precision medicine that treats the root cause. 2026 is the year the race for a cure starts to become reality, which is key because time is brain. You can quote me on that one. So let’s go through that and just hit a couple points. SYNGAP1 is an ultra-rare genetic condition. Rare disease is any disease with less than 200,000 patients. Do you have any idea how much money we would have, how much research we could fund, and how fast we’d be moving if there were 200,000 Syngapians in the USA. I’ve got 500. Right. It’s kind of like if you’re worth, I’m making up numbers here. If you’re worth $200,000 and someone says to you, ‘Hey, what are you worth?’ and you’re like, ‘I’m worth $2 million.’ No, I’m worth $20 million. Sorry. They’d be like, ‘Whoa.’ And someone’s like, ‘You’re not worth 20 million. You’re worth like 200,000.’ The difference is two zeros, right? A rare disease is 200,000 or more. They have a lot of families. They have a lot of people who are paying attention to them. An ultra-rare disease is take off 2 zeroes, 2,000 or less. That’s us. Ultra-rare and rare is chalk and cheese, people. Stop saying we are a rare disease. I’m guilty of it. I’ve said it. We need to all be saying we are an ultra-rare disease and emphasize that there are too few patients that have been diagnosed. Of course, we believe more patients are out there and they need to be tested. Second point to emphasize, we are a developmental and epileptic encephalopathy. There is a major difference between an NDD, a neurodevelopmental disorder. Autism is a neurodevelopmental disorder. We are much bigger than… Autism. A DEE is an NDD plus epilepsy, plus refractory epilepsy that continues to take a toll and damage the brain. It’s a much bigger deal and it’s a term we need to use. We are a DEE. The spontaneous mutation bit is super important. We are de novo. Right? That it’s important that nobody thinks that they got this. It’s not in their family. It’s not in their blood. And that people aren’t embarrassed about it. It’s just incredibly bad luck. ifelong impact, right? It’s important and this is hard for us to talk to these new families who are so young and coming in super early, but the autism, the behaviors, the seizures, they tend to get worse. Over the first 20 years of life, it’s it’s it’s it’s rough. Guys, but the only thing that doesn’t change is the intellect these kids. These kids really don’t develop and that’s why we need to get into their brains and address the root cause with the key therapy. Um, Daily Family Toll. There’s a lot of quotes in here. There’s a lot of citations. But the burden is intense, and it’s important to start with the trinity of autism, epilepsy, and intellectual disability, but then to add… The aggressive behavior is the profound sleep, the GI, and the motor. The family toll, we just need to be honest about it. And you guys need to be honest about it, especially with your extended family when you’re asking for help. The extended family is either going to fall away or they’re going to rally in and help you. And the more you talk about it and help them understand that, the better. And then hope. Hope is a really big deal, guys. CURE SYNGAP1 is sitting here, just working like crazy to build a better future for our kids and a precision therapy. Precision therapy, I just want to emphasize, this is a really specific term, right? So our kids have all these symptoms— the GI, the autism, the behavior, the epilepsy, whatever. And we can just carpet bomb them with drugs and try to knock out all of these symptoms. And then we’re going to have all of the side effects. And we’re going to start drugging those. And then we’re not even going to understand why we’re giving which drug to our kids anymore. But the doctor’s going to say, ‘Don’t take any away.’ And we’re going to be like, what does their liver look like? This is a separate issue. Precision therapy says all of these symptoms are because of the deficiency of SYNGAP1. And we have a medicine here— an antisense oligonucleotide in the case of CAMP4. Maybe a gene therapy in the case of someone else. That we can inject into their central nervous system, and we can upregulate, we can fix the deficiency of Syngap. And then conceptually, all of these problems, over time… Great, because if your kid’s five, your kid’s had this problem for five years and nine months. Since they were conceived. And over time, of getting the ASO, the brain can… Repair itself a little bit and all of these symptoms can drop away. That’s the vision. So really. Time is brain. Those are the last words in my talking points, and they might want to be the last words in your speech because that’s the most important thing. We have a tremendous sense of urgency at CURE SYNGAP1. We need to move fast. We need to raise money. We need to use our time and our money as efficiently as possible to help our kids. These are my talking points. Let me know your feedback. Thanks so much for listening.