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Over 1,600 families are caring for a loved one with the rare disease ”SynGAP” resulting from a variant of the SYNGAP1 gene. This weekly podcast is for them. -A quick summary of the latest news in the space. The host is Mike Graglia, co-founder & managing director of CURE SYNGAP1. CURE SYNGAP1 is a parent-led public charity in the US that strives to accelerate research into treatments for SYNGAP1 so that we can help our loved ones in a timeframe that matters. Learn more at https://cureSYNGAP1.org
Episodes
Wednesday Sep 10, 2025
Wednesday Sep 10, 2025
Wednesday, September 10, 2025. Week 37.
CAMP4 Press Release:
https://www.linkedin.com/posts/caleb-moore-4382704_syngap1-activity-7371545171047628800-zVqR
Let me tell you a story:
- EW Story, concern over viability of C4.
- Easy to follow financials, Mrkt Cap and Net assets of ~$40M. Net income/EBITDA of -$12.6M in Q2.
- Running Phase I / II trials and ramping up for Phase III, not cheap. They need more than they had and capital is hard to get in this market.
- But here is the good part, the data is solid, the team is strong, and the SYNGAP1 Ecosystem is excited to have a first mover.
- SRF was thrilled to be invited, not just because we believe in C4, but because we wanted to send a meaningful signal to other investors that we are working closely with C4 and are eager to support their success. I believe that our investment, while modest, sent that signal and helped this raise become oversubscribed.
- The board worked hard on this one.
Now for hard questions:
- Are we conflicted? No. We will transparently share info about all trials for products with good data. ( See #S10e172 for ASGCT Data https://youtu.be/9xO1TcO1Eus )
- Will other companies be upset? Unlikely. Stoke and Praxis are the only companies publicly working on SYNGAP1 that are close to this point and they are not worried about financial viability, but if they do want to do a raise for their SYNGAP1 program, they should certainly call us.
- What will other companies think? Indeed we are de-risking the disease by showing that our kids are modifiable with ASOs which are the majority of the therapies in scope. This is a huge favor to others looking at this space.
- Isn’t this taking a risk with our funds? Depends. But if it is, it’s a risk worth taking. Remember we are the smallest investor, we only committed up to $1M, so other professional biotech investors put in $99M.
- What was the process? C4 came to us, we decided it was worth talking to the board who had multiple discussions but we said yes in less than a week and that was last week.
When is the trial? 2H26 Less than a year from now. With this financing, I am sure of it.
As I write this, the $CAMP stock closed up $0.80 or +40%. Which is solid. The market is starting to agree with the wise investors and SRF!
Yes we need a cure.
https://www.linkedin.com/posts/curesyngap1_savekramerdavis-activity-7371607032807763968-PVfG
See you Friday: Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25
SOCIAL MATTERS
- 4,311 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 1,430 YouTube. https://www.youtube.com/@CureSYNGAP1
- 11,286 Twitter https://twitter.com/cureSYNGAP1
- 46k Insta https://www.instagram.com/curesyngap1/
Episode 182 of #Syngap10 #CureSYNGAP1
#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS
Monday Sep 08, 2025
Monday Sep 08, 2025
Sunday, September 7, 2025. Week 37.
Why does CURE SYNGAP1 aka SRF matter? Do PAGS make a difference?
Heck yes.
- Empower Families - Support. Educate. Activate. Coordinate.
- Use Money Catalytically - Tax advantage. Pool. Manage. Make Catalytic. Focus. Manage.
- Partner with Science & Medicine - Push forward. Connect efforts. Focus on Tx. Work in Clinic.
- Leverage Ecosystem. Industry. PAGs. Superpags (CB, GG, ELF).
- Ensure Continuity. Our kids will outlast us. Our energy wanes. Life happens. Cure SYNGAP1 never stops focusing on the biggest challenge in our lives: SRD.
Because you VOLUNTEER
Join us: https://curesyngap1.org/volunteer-with-srf/
Gala video: Look at those faces.https://www.youtube.com/watch?v=d6dCSBq27Gc
Friday: Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25
Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble
📺 TV Interview! https://www.wspa.com/your-carolina/scramble-for-syngap-2/amp/
Conference is in 88 Days
https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/
- Register (97 done!)
Need to register for the conference? Do that here: cureSYNGAP1.org/Reg25
- Get a Room (Deadline 11/3 – Will sell out)
Need a hotel room? Use our block here: cureSYNGAP1.org/GATech
- Get Friday Dinner Tickets we are going to AltaToro https://altatoro.com/ (20 already sold!)
Register here: cureSYNGAP1.org/Din25
- SHARE BLOOD TO THE SRF BIOBANK
🩸https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow
#Elopement (See #S10e178 https://www.youtube.com/watch?v=OiRnXxh0wfY)
https://people.com/boy-rescued-from-hersheypark-monorail-is-on-the-autism-spectrum-says-rescuer-11802782
https://www.facebook.com/NationalAutism/posts/pfbid02MqviB8pfYpm8QMw5ASqp9XMQY2MsL7mVcJSfeLmzsHLHBAt9bBDjfuqdg2awXAtsl
3rd Scientific Congress in Spanish Oct 11 virtual 9-1:30 ET, 8-12:30 in Colombia
https://curesyngap1.org/calendar/tercer-congreso-cientifico-syngap1-en-espanol/
Register at cureSYNGAP1.org/Congreso3
SOCIAL MATTERS
- 4,306 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 1,430 YouTube. https://www.youtube.com/@CureSYNGAP1
- 11,286 Twitter https://twitter.com/cureSYNGAP1
- 46k Insta https://www.instagram.com/curesyngap1/
Join Citizen Health! Last count we were at 275!
https://www.citizen.health/partners/srf
Pubmed is at 42!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc
NEWLY DIAGNOSED?
Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/
Resources
https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families
Podcasts, give all of these a five star review!
https://cureSYNGAP1.org/SRFApple
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 181 of #Syngap10 #CureSYNGAP1
#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS
Friday Aug 29, 2025
Friday Aug 29, 2025
Friday, August 29th, 2025. Week 35.
5th Annual Gala was a great success! cureSYNGAP1.org/Gala5
Sad to miss it? Join us in Boston or South Carolina. Deadline for Boston is 9/3 for tickets.
Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25
Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble
SRF is active in Lisbon at #IEC2025 thank you KD, JA, VA! Hi Dr. Knowles!
We are at Booth #17 https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-familyjourney-resilience-activity-7366951726001606657-6pcM
#Bexicaserin News: New data from the PACIFIC Study, LP352-202, Open Label Extension (OLE) will be presented at the 36th International Epilepsy Congress (IEC) in Lisbon, Portugal (Aug 30 - Sept 3, 2025).
The full results of the open label extension (OLE) of the Phase 1b/2a PACIFIC trial investigating bexicaserin for the treatment of patients with Developmental and Epileptic Encephalopathies (DEEs), will be presented for the first time at the International Epilepsy Annual Congress
Bexicaserin, which has been granted Breakthrough Therapy designation by the FDA, demonstrated reductions in countable and total motor seizure frequency in the extension study comparable to reductions seen in the Phase 1b/2a PACIFIC trial, reinforcing durability of response and validating its progression to Phase 3 trials.
Additional data will be presented from the audiogenic seizure model and the GAERS absence epilepsy model, investigating sudden unexpected death in epilepsy (SUDEP), and seizure reduction respectively.
During the OLE, a median reduction of 59.3% in countable motor seizure frequency was observed, with 55% of participants experiencing reductions of ≥50% compared to the baseline before the PACIFIC trial.
This trial, EMERALD and other studies all at https://curesyngap1.org/resources/studies/
See and comment on Vicky’s recent post on her 7 year SYNGAP1-iversary:
https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-familyjourney-resilience-activity-7366951726001606657-6pcM
Join Citizen Health, we are at 275! We should double that.
https://www.citizen.health/partners/srf
DSCIII Renewed to include SYNGAP1 alongside TSC, SHANK3 (aka PMD) and PTEN.
CFC Starts on 9/1
https://curesyngap1.org/events/fundraisers/combined-federal-campaign-2025/
🔥🌡️ Syngapians don’t like the heat.
Conference is in 96 Days
https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/
Pubmed is at 39!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc
SHARE BLOOD TO THE SRF BIOBANK AT CB!
https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/
VOLUNTEER
Join us: https://curesyngap1.org/volunteer-with-srf/
SOCIAL MATTERS
- 4,299 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 1,420 YouTube. https://www.youtube.com/@CureSYNGAP1
- 11,298 Twitter https://twitter.com/cureSYNGAP1
- 46k Insta https://www.instagram.com/curesyngap1/
NEWLY DIAGNOSED?
Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/
Resources
https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families
Podcasts, give all of these a five star review!
https://cureSYNGAP1.org/SRFApple
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 180 of #Syngap10
#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS
Friday Aug 22, 2025
Friday Aug 22, 2025
Friday, August 22nd, 2025. Week 34.
The 5th Annual Gala is happening now!
Sad to miss it? Join us in Boston or South Carolina.
Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25
Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble
Stoke Therapeutics indicates they will have a target for SYNGAP-1 in 2026!
https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-2025-financial-results
12 Aug 2025 “Lead optimization is underway to identify a clinical candidate for the treatment of SYNGAP-1 in 2026. SYNGAP-1 is a severe and rare genetic neurodevelopmental disease.”
Just over 20 FDA approved Oligos and siRNAs today. We are still so early.
Congrats to Monica E. & Grann Therapeutics, seeing a child dosed for the first time with a novel medicine was remarkable.
https://www.grannpharma.com/press-releases
The SYNGAP1 Village: How Extended Family Can Provide Vital Support
https://curesyngap1.org/blog/syngap1-village-extended-family-can-provide-support/
Here’s a fun topic to discuss with your family, brain donation. https://www.autismbrainnet.org/
55yo with Dravet, lots of insights, Brava to Dr. Andrade and team! https://onlinelibrary.wiley.com/doi/10.1111/epi.18613
SRF joins with CHOP, Wistar and other Philly-area research institutions with a letter to urge legislators to reject NIH cuts.
8/20/25 Letter can be viewed in SRF Public-facing drive
https://drive.google.com/file/d/1HHmCAuRYAQxb_1DtMtkQTz3H8__g9zKq/view?usp=drive_link
Philadelphia Inquirer picked up the story 8/20/25
https://www.inquirer.com/health/medical-research-institutions-reject-nih-cuts-20250820.html
More on #Elopement: Alarms, Roofs, Resonated. Keep talking to doctors about this. Post is up to 139 Votes, percentages little changed, join the conversation on FB. https://www.facebook.com/groups/syngap/posts/1734514154096968/
#S10e178 - https://www.youtube.com/watch?v=OiRnXxh0wfY
Conference is in 103 Days
https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/
Pubmed is at 38!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc
SHARE BLOOD TO THE SRF BIOBANK AT CB!
https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/
VOLUNTEER
Join us: https://curesyngap1.org/volunteer-with-srf/
SOCIAL MATTERS
- 4,285 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 1,420 YouTube. https://www.youtube.com/@CureSYNGAP1
- 11,294 Twitter https://twitter.com/cureSYNGAP1
- 46k Insta https://www.instagram.com/curesyngap1/
NEWLY DIAGNOSED?
Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/
Resources
https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families
Podcasts, give all of these a five star review!
https://cureSYNGAP1.org/SRFApple
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 179 of #Syngap10
#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS
Monday Aug 18, 2025
Monday Aug 18, 2025
Tony (11, M) Story. Now we sleep with the alarm on every night.
Elopement:
- involves leaving a safe or supervised area without permission.
- poses a risk to the individual's safety.
- can occur in various settings.
- is a common behavior in individuals with ASD.
Virginie (10, M) Stories and Service Dog.
Single Mom (9, M) heading to the judge and calls me asking for papers. Here you go…
Let’s note that Elopement was masked behind broader buckets and I think this is a miss. We need to name and discuss this very challenging behavior.
FB Survey. 4 hours. 100+ votes, 100 comments. https://www.facebook.com/groups/syngap/posts/1734514154096968/
76% of respondents eloped (35% F, 41% M)
24% didn’t (17% F, 7% M)
- 11 F, no elopement at home - but sometimes tries to elope while at school.
- C ( has always been an eloper - kid has a sixth sense for when someone leaves the door unlocked
- C elopes and age 16 years old
- H 9 girl constantly running away
- B-7.5 years old
- Girl - 3
- Fourteen. She doesn't anymore, but used to. Not to the degree that other families struggle, but we definitely had to keep an extra close eye/ear. Had bells on all our doors, etc. Did get a call from our neighbor once while I was making dinner saying that S had just walked into her house, that she was safe, and was helping to give their baby a bath. Thankfully they were very good friends and took it in stride. (S was about four at the time.)
- Boys age 7. He has for awhile
- Boy, age 8.5. Just started eloping more so recently, in the last year.
- 11, girl
- Boy age 15
- 13 year old girl
- Girl-3
- Ty 10 elopes since he can walk. It’s our biggest problem.
- Boy age 8 but has been doing it for a while
- Age 7, girl.
- Boy - 14y/o
- Boy age 9… he’s a track star!
- Boy age 12, has eloped since he could walk/run. It probably peaked around age 6 and got better with meds. Elopement is less frequent now but scarier now that he’s older and higher.
- Boy 10. Always has wandered and will still now run off knowing he’s not suppose to
- Any chance he gets 13
- My boy (22 y/o) always was and is now a master of escape, he can hear if I turn the key in the door, front door has an alarm fitted just in case
- Boy , 25 the risk is high because he looks typical
- 25 yo female, requiring alarms, cameras,and specialized door locks. In a state that says that these measures are unlawful restraint and invasion of privacy
Frazier, 2025. Extremely High finding as a Symptom of SYNGAP1. See Table 2 of Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders
https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16112
McKee, 2025. Notes the significantly heightened enrichment of Autistic Behavior and Behavioral Abnormality vs. Rett, Angelman or Epilepsy cohorts. See Figure 2B of Clinical signatures of SYNGAP1-related disorders through data integration.
https://www.gimjournal.org/article/S1098-3600(25)00066-8/abstract
Cunnanne, notes impulsivity (which is a euphemism for elopement if I have ever heard one) and has three quotes in Table 1 (see below), but also notes in Figure 2 that both ASD and lack of danger awareness came up in almost every interview. See SYNGAP1-Related Intellectual Disability: Meaningful Clinical Outcomes and Development of a Disease Concept Model Draft. https://papers.ssrn.com/sol3/papers.cfm?abstract_id=5098346
Impulsivity quotes:
Runs toward streets - “He wouldn't stop himself from running into the road. He climbs things in that house that you're
like‘oh my god, how are you going to get out of that?’”
Jumps into pools - “He would walk into a pond. We were at the pool the other day…and he
just walked off the edge and just fell into the water and was like… he would have just drowned.”
Runs toward crowds - “She was a bolter. So that was always scary. We had a few scares where you look away for a
moment, I mean, we always had somebody with her, but it could be a moment's time and it's like
where'd you go, you thought she was right there.”
FUNDRAISING
3 events in 3 states… https://mailchi.mp/curesyngap1.org/3-events-1-mission-support-syngap1-families-this-fall?e=e95ed9a1c4
Gala for SYNGAP1 August 22, 2025 - Farmingdale, NJ cureSYNGAP1.org/Gala5
Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25
Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble
Also, Conference is in 107 Days
https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/
STUDIES - MATTER
https://docs.google.com/presentation/d/1yRPHMRY3pXPgbOacDM9Sr906VejdJWsonUWvqRD9VVI/edit?usp=sharing
Pubmed is at 37 (One a week!)
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc
SHARE BLOOD TO THE SRF BIOBANK AT CB!
Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/
VOLUNTEER
Join us: https://curesyngap1.org/volunteer-with-srf/
SOCIAL MATTERS
- 4,283 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 1,420 YouTube. https://www.youtube.com/@CureSYNGAP1
- 11,303 Twitter https://twitter.com/cureSYNGAP1
- 46k Insta https://www.instagram.com/curesyngap1/
NEWLY DIAGNOSED?
Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/
Resources
https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families
Podcasts, give all of these a five star review!
https://cureSYNGAP1.org/SRFApple
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 178 of #Syngap10
#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS
Friday Aug 08, 2025
Friday Aug 08, 2025
Friday, August 8th, 2025. Week 32.
CURE SYNGAP1 aka SRF is getting more complex daily, and this is a good thing.
Today: Event planning, DCM Advising, Patient Advocacy Connecting, Infrastructure building, Conference Preparation.
DCM - Cunnane: https://pubmed.ncbi.nlm.nih.gov/40494056/
My comments at the 2024 Conference:
curesyngap1.org/resources/webinars/webinar-103-m-syngap1-conference-family-day-2024-whats-next/
PRESS
Neuren on #NNZ2591 https://www.linkedin.com/posts/curesyngap1_neuren-adds-syngap1related-disorder-to-nnz2591-activity-7359712115668013057-2-HX
CAMP4 in IPM
FUNDRAISING
3 events in 3 states… https://mailchi.mp/curesyngap1.org/3-events-1-mission-support-syngap1-families-this-fall?e=e95ed9a1c4
Gala for SYNGAP1 August 22, 2025 - Farmingdale, NJ cureSYNGAP1.org/Gala5
Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25
Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble
Also, Conference is in 117 Days
https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/
STUDIES - MATTER
https://docs.google.com/presentation/d/1yRPHMRY3pXPgbOacDM9Sr906VejdJWsonUWvqRD9VVI/edit?usp=sharing
Pubmed is at 32 (One a week!)
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc
SHARE BLOOD TO THE SRF BIOBANK AT CB!
Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/
VOLUNTEER
Join us: https://curesyngap1.org/volunteer-with-srf/
SOCIAL MATTERS
- 4,265 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 1,410 YouTube. https://www.youtube.com/@CureSYNGAP1
- 11,304 Twitter https://twitter.com/cureSYNGAP1
- 46k Insta https://www.instagram.com/curesyngap1/
NEWLY DIAGNOSED?
Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/
Resources
https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families
Podcasts, give all of these a five star review!
https://cureSYNGAP1.org/SRFApple
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 177 of #Syngap10
#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS
Wednesday Jul 30, 2025
Wednesday Jul 30, 2025
Wed July 30, 2025
Audience: Any family with a DEE who has a kid who has seizures, yes SYNGAP1 is a DEE and you are always my first audience.
See #S10e133 if you are curious about DEE vs other names. https://curesyngap1.org/podcasts/syngap10/what-is-this-syngap1-illness-disease-syndrome-ndd-dee-mrd5-nsid-actually-called-s10e133/
Action: If your kid has motor seizures, fill out the screener and join this amazing study.
Link here: https://www.resiliencestudies.com/emerald
A motor seizure is a seizure where you can see something moving – including head drops, drops, convulsive, etc. – only excluded seizures are absence, myoclonia and infantile spasms. You don’t need to figure this out, just fill in the screener, let the doctors figure it out.
Questions: Come to live webinar tomorrow, it will not be recorded, so you have to come register here:
TRIAL.
Any DEE patient with 4 motor seizures a month, minimum.
Age 2-65. Adults are you listening?
24 weeks (6 months) weeks, placebo controlled but everyone will get drug at some point in the trial.
28 weeks (7 months) week OLE, with a chance for expanded access, so if it works, you can stay on.
Fully decentralized, you don’t have to go to a site if you don’t want to.
One US site open so far in Bethesda, there will be others. Int’l sites in 2026. US ENROLLING NOW.
DRUG.
Lots of science and big words in the links below, but here is what you need to know as a parent.
- It’s a liquid, can go oral or in a g-tube.
- There is no ramp up, you put it in and it works. In terms of speed, think Lorazepam not Lamotrigine.
- It’s potent and specific, which means small volume. Roughly 1ml for 10 kg. This will be a rounding error in the face of a normal SynGAPian med regime.
- Even though this is a sodium channel drug, it should benefit all DEEs b/c, good to clarify tomorrow, all seizures end with a hyperactive sodium channel firing and that is what Relutragine focuses on.
PRAXIS.
Serious people, lots of work on Epilepsy. Connected to SYNGAP1 and DEEs, just need to move faster on SYNGAP1 ASO!
- CSO is Steve Petrou, works with SRF AUS and knows they are waiting.
- KD and AN started a company for SCN2A and it was absorbed by Praxis, they are still there and are relentless.
- Work on both small molecules and ASO, this is a way for them to see our team in action.
Cool links:
AES 2024 Story. https://eppro01.ativ.me/web/page.php?page=session&project=AES24&id=2894147
Embold read out: https://www.neurologylive.com/view/relutrigine-shows-promise-phase-2-embold-study-scn2a-dee-scn8a-dee
More links. https://delta.larvol.com/Products/?ProductId=05ccb036-a308-4249-abf6-e03b120839da
Why am I doing this?
- We need better meds and the way to meds is through trials.
- We need to jump at every trial, every time.
3. This one is decentralized, so minimum burden. - If you get in now, this will be over before it’s ASO trial time, so you could do both.
- Our Syngapians with motor seizures tend to be our most severe, we have to make sure we find out if this drug can help. All our kids may progress to this point.
See you at the webinar, fill out the screener now: https://www.resiliencestudies.com/emerald
Wednesday Jul 16, 2025
Wednesday Jul 16, 2025
July 16, 2025. Week 29.
- What is a natural history study (NHS)? And why do we care?
We care because we haven’t done this before, heal those born with disease.
Natural history studies, which examine the progression of a disease over time, can be either retrospective or prospective. Retrospective studies analyze existing data, like medical records, while prospective studies collect new data over time. Both types are valuable for understanding a disease's course and informing research and treatment strategies.
NHS are critical for clinical trial design. Size and Quality matter. Validated scales are better than PROs regardless of what the current rhetoric is.
- What’s going on now?
USA - https://curesyngap1.org/resources/studies/syngap1-ProMMiS/ - 135+ over three sites, some with FOUR visits, and counting - Adding GCP - Collaborating with world class institutions and excellent clinicians at Stanford, Children’s Colorado and, of course, CHOP.
USA - https://Citizen.Health/partners/srf has almost 300 patients! Retrospective Health Data.
USA - https://rare-x.org/syngap1/ is where we collect PROs.
Australia - Dr. Sheffer is running a study, talk to her or Dani.
Latin America - SYNGAP1 Argentina with others joining.
Europe - https://www.patre.info/syngap1/
- Key takeaways for Industry
SYNGAP1 is well positioned to work with… Vlasskamp and Wiltrout are published, Citizen Health is growing & ProMMiS is truly exceptional – and growing, and Rare-X is collecting eight key PROs. Additionally, there are significant international efforts in Australia, Latin America & Europe.
Census: https://curesyngap1.org/blog/syngap1-census-2025-update-55-in-q2-2025-total-1636/
If you are in industry and thinking about starting another NHS for your asset, please don't. Please instead partner with existing PAGs and NHS studies in your key geographies to move faster, have bigger N and not waste precious patients time, we need to accelerate drug development not slow it down by diluting patients and clinicians between too many studies.
Baseline papers on SYNGAP1:
1998 - Huganir - SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family - https://pubmed.ncbi.nlm.nih.gov/9581761/
2009 - Michaud - Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation - https://pubmed.ncbi.nlm.nih.gov/19196676/
2013 - Carvill - Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 - https://pubmed.ncbi.nlm.nih.gov/23708187/
2019 - Vlasskamp - SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy - https://pubmed.ncbi.nlm.nih.gov/30541864/
2023 - Rong - Adult Phenotype of SYNGAP1-DEE - https://pubmed.ncbi.nlm.nih.gov/38045990/
2024 - Wiltrout - Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism - https://pubmed.ncbi.nlm.nih.gov/38470175/
Pubmed is at 28 (so less than one a week…)
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc
CURE SYNGAP1 CONNECT
https://curesyngap1.org/curesyngap1connect/
SHARE BLOOD TO THE SRF BIOBANK AT CB!
Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/
VOLUNTEER
Join us: https://curesyngap1.org/volunteer-with-srf/
SOCIAL MATTERS
- 4,238 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 1,400 followers with 575 Videos on YouTube. https://www.youtube.com/@CureSYNGAP1
- 11,302 Twitter https://twitter.com/cureSYNGAP1
- 46k Insta https://www.instagram.com/curesyngap1/
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
Podcasts, give all of these a five star review!
https://cureSYNGAP1.org/SRFApple
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 175 of #Syngap10
#RareDisease #PatientAdvocacy #SYNGAP1 #SynGAP #ProMMiS
Monday Jul 07, 2025
Monday Jul 07, 2025
July 7, 2025 Week 28
ADAMS CAMP
https://curesyngap1.org/podcasts/syngap10/adams-camp-is-amazing-so-are-compression-vests-s10e110/
CENSUS & WHY WE WILL SEE MORE PATIENTS
AAP recommends Whole Exome as a first line test for GDD/ID.
SYNGAP1 Census 2Q25 +55; new total 1,636, but we need to look at country by country to appreciate how low that is.
https://curesyngap1.org/census/
https://docs.google.com/spreadsheets/d/1oJwMysR2wyTxe91zLlKJglNa0NySPxkBF0PRiV6mBmM/edit?gid=0#gid=0
First patients from Bulgaria, Pakistan, Paraguay, and Uruguay. US, Germany & France growing but UK standing still?
WARRIORS & PARENT STORIES https://curesyngap1.org/syngap-warriors/
Charlotte - Charlotte is 18 months old - diagnosed on May, 2025, just over a month ago. Already been to UNC and planning to go to CHOP. 17I thought it was worth noting the fast action this family is taking.
Martina - First patient from Uruguay.
SYNGAP1 Stories episode 35 Nicole Ciccone, son Jackson (from Georgia, near Atlanta) cureSYNGAP1.org/Stories
IMPORTANT SRF POSTS
Webinar #108 - Repurposing opportunity for SYNGAP1 Specific nonsense mutations with Dr Bruce Bloom, Founder of Fortuity Pharma is up https://curesyngap1.org/resources/webinars/webinar-108-fortuity-pharma-repurposing-nonsense-mutations/
VOLUNTEER SHOUT OUT
Suzanne Vreeland Jones for helping get the resource mobilization group organized in general and attending so many meetings, applying for grants, organizing the drive, and creating a fundraising plan for the rest of the year. And just generally caring about what’s going on and what needs to get done. She’s also the board chair and organizes all of that every 6 weeks. Then there’s so much she’s done and is doing for the conference so far as it is in Atlanta. We can trust it will be a nice event with her helping and being so close.
CONFERENCE - DECEMBER 4th & 5th
Hotel has been selected for Atlanta - Georgia Tech Hotel & Conference Center; see cureSYNGAP1.org/Atlanta
FUNDRAISING - SIBLINGS ARE THE NEXT GEN OF SRF
Fundraiser - LOVING ON LIAM - Emma's Hope for a SYNGAP1 Cure; fundraiser by Liam's sister Emma, who is promising a handmade pin for $5+ donations and over $100 a front flip off the diving board - cureSYNGAP1.org/Liam raised $2,370 in June!
WEBINAR
#108 - Repurposing opportunity for SYNGAP1 nonsense mutations with Dr Bruce E. Bloom from Fortuity Pharma is up on YouTube https://youtu.be/4nqCLwuikIE?si=xWtbw-5OP_uMBwK5 and our website cureSYNGAP1.org/Webinars
PRESS RELEASE
WHY OUR RESEARCH MATTERS
Bowie Lab Talk on Glutamatergic Neurons. We learn about Intelligence from studying ID.
https://www.youtube.com/watch?v=sfcN2BuZOJw
NUMBERS
PUBMED 334, 26, so -1 vs. weeks.
Follow on Youtube and LinkedIn, they matter.
https://www.linkedin.com/company/curesyngap1/ 4,221
https://www.youtube.com/@CureSYNGAP1 1,390
#S10e173 CORRECTION
I credited the Sprint blog to "probably Ed". Thanks, but that one was coordinated by Jo Ashline.
NICOLE’S POST
I hate Autism Awareness Month. It stirs up so many emotions- anger, grief, and frustration for everything autism has taken from my son.
Dear Syngap,
It’s me again. You’d think after all this time, we’d have some kind of understanding. But we don’t. We never will. You barged into our lives uninvited, turned our world upside down, and refused to leave. You’ve taught me lessons I never asked for, dragged us down roads we never wanted to travel. You’ve humbled me, broken me, enraged me.
I’ve cried because of you. Screamed into the silence. Begged the universe for answers it refuses to give. I’ve celebrated victories that should have been simple, ordinary things—but with you lurking in the shadows, nothing is ever simple. If I’m being honest, I hate you. I hate what you’ve done to my son. I hate that you’ve taken things from him that should have been his without question—his voice, his strength, his ease of movement, his peace.
One day, he climbs like he was born to conquer mountains. The next, he struggles to take a step. You’re a thief, Syngap. You steal his vision, rob him of his muscle tone, drain his energy until even smiling feels like work. You wrap yourself around his body, his mind, his very existence, and no matter how hard I fight, you never let go.
You make him miserable. And I hate you for it.
You turn his nights into a battlefield, his sleep stolen by seizures, restlessness, and the chaos you planted in his brain. You keep his words locked inside, hidden in a place I can’t reach. And God, how I wish I could reach them. How I wish I could hear his thoughts, understand the words he wants so badly to say. Instead, I watch. I listen. I hold him when the frustration turns to tears, when his body betrays him, when he fights a battle most will never see.
People don’t see what I see. They don’t hear the cries in the middle of the night or witness the exhaustion in his body. They don’t see the war raging inside him. And me? I’ve been called crazy, overprotective, dramatic. But I don’t care. I’ll wear those labels like armor. Because as long as my son is fighting, I will fight harder.
You tried to take so much from us. You tried to steal my marriage, tried to break my family apart, tried to strip away our joy. You’ve knocked us down, over and over again. But listen to me, Syngap: you will never have us.
And here’s the strangest thing. For all the hell you’ve put us through, you’ve also given me things I never expected. You’ve made me stronger than I ever thought possible. You’ve forced me to fight with a fierceness I didn’t know I had. You’ve shown me how to love deeper, to celebrate what others overlook, to appreciate moments most take for granted.
You take and you take—but somehow, you also build. You break, yet somehow, you make us unbreakable.
But hear me loud and clear: you don’t win.
Tomorrow, my son will wake up, and despite you, he will rise. He will smile. He will fight. He will accomplish things you never thought he could. And I? I’ll be there, standing beside him, fighting for him, daring you to try and stop us.
You don’t get the final say, Syngap. Not today. Not ever.
My son is more than you. And you have underestimated his mother.
Sincerely,
A Syngap Momma
Friday Jun 20, 2025
Friday Jun 20, 2025
It’s been a month, in that time we’ve had a few important webinars, published lots of wonderful content & attended BIO in Boston this week. Thank you Virginie for going to BIO
Ambry was awesome https://www.linkedin.com/posts/graglia_syngap1-ambryknowsgenes-activity-7336183874890231809-Beua
CURE SYNGAP1 CONNECT
https://curesyngap1.org/curesyngap1connect/
CAMP4 Update - Hear it from them, in our US or EU Webinar.
US https://curesyngap1.org/resources/webinars/106-srf-us-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/
EU https://curesyngap1.org/resources/webinars/107-srf-eu-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/
Amlexanox and Cool Science
Amlexanox (Repurposed Readthrough Drug) https://curesyngap1.org/resources/webinars/webinar-108-fortuity-pharma-repurposing-nonsense-mutations/
Cool Science https://curesyngap1.org/resources/webinars/webinar-109-linking-syngap1-and-human-specific-genes-srgap2b-c-that-control-the-tempo-of-synaptic-development/
Inaugural New Family Webinar
Saturday June 28th, 2025, 9 AM Pacific https://curesyngap1.org/resources/webinars/syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/
Tuesday Sept. 9th, 2025, 5 PM Pacific also already scheduled!
STUDIES - MATTER
ORTAS (need many, 27 signed up, 8 completed.)
https://curesyngap1.org/resources/studies/ortas-observer-reported-toileting-abilities-survey/
BEACON (need 7) https://curesyngap1.org/resources/webinars/98-dreem-eeg-headband-to-assess-sleep-eeg-biomarkers-in-syngap1/
“Dear Families,
This is a brief update on the Communication abilities in Children with Genetic Conditions study.
The Communication abilities in Children with Genetic Conditions study collected parent-reported data on communication ability from 113 families and direct speech and language data from 33 children. Data collection has now closed and research reports are in preparation for the three most successfully recruited conditions; KBG syndrome, SYNGAP1-related disorder, and differences in MED13L. While the study was initially open to a wider group of single-gene conditions, it was only possible to recruit full data sets and large enough samples to produce high quality research reports for these three conditions. While not all of the data collected from families will be included in the research publications, all of the data provided by families has been extremely valuable to the study. Where permission has been given, anonymised data will serve as valuable pilot data to support future funding applications for research on relevant gene conditions.
We thank all families for their valued time and participation in the project. Further updates will share our research reports as they become available.
With best wishes,
Harriet and the Communication abilities in Children with Genetic Conditions study team.”
PRESS
JJ in MD https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-activity-7331703029949267969-7AeK/
Stories #34 with Jo Ashline https://curesyngap1.org/podcasts/syngap1-stories/
Warriors Santiago, Axel and Issac! https://curesyngap1.org/syngap-warriors/
Cafe SYNGAP1 with Dina from NY https://curesyngap1.org/podcasts/cafe-syngap1/dina/
NL45 https://mailchi.mp/curesyngap1.org/make-a-splash-for-syngap1-awareness-45
FUNDRAISING
Sprint Blog is Epic https://curesyngap1.org/blog/sprint4syngap-raises-over-200k-for-syngap1-in-5th-annual-fundraiser/
MDBR just happened Four team members raised $15,795 so far. Thanks to Heather Mestemaker, Justin Albrecht, Aaron Harding, and Alicia Harrison. https://cureSYNGAP1.org/MDBR
Harper $5k match! https://donate.curesyngap1.org/campaign/694764/donate
Liam https://donate.curesyngap1.org/campaign/696438/donate
Story https://donate.curesyngap1.org/campaign/695981/donate
Thank you for your support, still matching! https://donate.curesyngap1.org/campaign/693597/donate
Pubmed is at 24 (so less than one a week…)
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc
Harrison paper on early exons and inherited mutations is great… https://www.eurekalert.org/news-releases/1088068
Cunnane DCM is out and Ingo noticed!
https://epilepsygenetics.blog/2025/06/20/revisiting-syngap1-through-a-disease-concept-model/
She spoke at SRF Conference https://www.youtube.com/watch?v=nXagMfYh9VA
SHARE BLOOD TO THE SRF BIOBANK AT CB!
Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/
VOLUNTEER
Join us: https://curesyngap1.org/volunteer-with-srf/
SOCIAL MATTERS
- 4,185 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 1,380 YouTube. https://www.youtube.com/@CureSYNGAP1
- 11,314 Twitter https://twitter.com/cureSYNGAP1
- 46k Insta https://www.instagram.com/curesyngap1/
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
Podcasts, give all of these a five star review!
https://cureSYNGAP1.org/SRFApple
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 173 of #Syngap10
#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS