CURE SYNGAP1 Podcast

Hosted by Mike Graglia, CURE SYNGAP1

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223

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Oct 2026

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The CURE SYNGAP1 Podcast is a weekly blog to keep parents and families up to date on what the team at CURE SYNGAP1 is doing to advocate for patients and advance research into SYNGAP1. If you do nothing else, listen to or watch this and let us know what you think. There are over 1,675 diagnosed patients on earth according to SRF's #SyngapCensus. If you are related to one of those patients or are a researcher or clinician interested in SYNGAP1, this podcast is for you. Learn more at https://cureSYNGAP1.org

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October 26, 2026Episode 2249 min

5 days left to register for the conf, #Pipeline, #ProMMiS Protocol, #ORCA Webinar & more #S10e224

Monday, October 26, 2026 — Week 44 DENVER — 5 DAYS TO REGISTER • Science Day 224 . Family Day 180 , including 33 kids/Syngapians . • Family Dinner 57 seats . Registration closes OCT. 31 . Register: https://cureSYNGAP1.org/Reg26 Dinner: https://cureSYNGAP1.org/Henrys Rare Reception: https://cureSYNGAP1.org/RR26 — thank you BioMarin, Lundbeck + Citizen Health. NEW PIPELINE + COLLABORATION • Updated SYNGAP1 therapeutic pipeline: https://cureSYNGAP1.org/pipeline • RAD video — broad collaboration is how rare diseases get treated. https://www.linkedin.com/posts/caleb-moore-4382704_many-terrible-diseases-will-find-treatments-ugcPost-7518359681396989952-8-XH • Nordli: Referral + Citizen data + COMBINEDBrain connections. He will speak at the conference. PROMMIS@cureSYNGAP1.org • “A prospective natural history study protocol for clinical trial readiness in synaptic disorders.” ProMMiS: 159 people with SYNGAP1-RD enrolled . https://doi.org/10.1002/epi.70374 • Sign up now at Philadelphia or Stanford. STUDIES + WEBINARS • DAY-C at CHOP: ages 9–18 , especially families unable to do ProMMiS due to travel/behavior. ENDD@chop.edu • ORCA Webinar #134 with Abby Rader — Nov. 10, 10:30 AM PT / 1:30 PM ET . https://cureSYNGAP1.org/Abby • ASCEND Webinar #131 now dubbed in 8 languages 🇩🇪🇪🇸🇫🇷🇮🇹🇳🇱🇵🇱🇵🇹 https://curesyngap1.org/calendar/webinar-131-camp4-syngap1-ascend-phase-1-2-trial BIOPACE, ACCESS + PRACTICAL HELP #BIOPACE26 posts: SJ https://lnkd.in/p/giMZkm2c (Thx for going to CB Annual Summit in Nashville, next!) https://www.linkedin.com/posts/graglia_syngap1-biopace26-curesyngap1-activity-7519425517163569152-Q6tF • REN + Epilepsy Foundation genetic testing roundtable: https://lnkd.in/p/gq8gf_6s • Triage Health FREE online conference Nov. 6–7 — insurance, appeals, finances, disability, work + planning. https://triagehealth.org/flyer-conference-november HEOR / REACH • Economic + Humanistic Burden Study with Global Genes, Kielo Research + Citizen Health. • Family input now → survey early 2027 . https://cureSYNGAP1.org/PR51 TRANSPARENCY • Five years of audited financials : https://curesyngap1.org/finances/ PUBMED • YTD: 59. +15 vs Week 44. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1 SOCIAL MATTERS 5.35k LinkedIn https://www.linkedin.com/company/cureSYNGAP1 1.64k YouTube https://www.youtube.com/@CureSYNGAP1 11k X https://x.com/cureSYNGAP1 43k Insta https://www.instagram.com/cureSYNGAP1/ Like + subscribe https://cureSYNGAP1.org/podcasts/syngap10 Episode 224 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

October 20, 2026Episode 2239 min

What You Need to Know & When: DAY-C, UNLOCK, Ari, ORCA, HEOR, Denver (11 days to register) #S10E223

Tuesday, October 20, 2026 — Week 43 WHAT YOU CAN DO RIGHT NOW • DAY-C remote developmental study — ages 9–25 . Especially important for families who cannot participate in ProMMiS because travel/behavior makes in-person testing hard. ENDD@chop.edu https://curesyngap1.org/blog/validating-remote-developmental-assessments-syngap1-related-disorders-grant-awarded-julie-orlando-center-for-epilepsy-and-neurodevelopmental-disorders-u-penn-jill-mckee-childrens-hospital-philadelphia/ • KNOW YOUR MUTATION. Join Citizen, ask Citizen; get Ari, ask Ari. ~70 families already using Ari. https://cureSYNGAP1.org/Ari • COMBIOMICS — if Isaac or Grace from COMBINEDBrain emails you, respond. Very important study. RAISE FUNDS VIA UNLOCK • $200,000 matching gift! • https://curesyngap1.org/calendar/unlock-their-tomorrow-2026-syngap1 COMING SOON — ORCA • ORCA validation recruitment is coming. This is the most important survey to complete in Q4 if you want to help change the future. TRAVEL • Suzanne, Eric and I are off to BIO this week on Th/F. • Next week Kathryn and I will be at the UK Conference followed by Edinburgh meetings. • Kathryn will travel on to FAST where she and Virginie will partner and learn. DENVER — REGISTER NOW • Science Day: 204 . Family Day: 168 , including 32 kids/Syngapians . Registration closes OCT. 31 . https://cureSYNGAP1.org/Reg26 • Rare Reception: https://cureSYNGAP1.org/RR26 • Family Dinner: 41 registered . https://cureSYNGAP1.org/Henrys AT THE CONFERENCE → EARLY 2027 — HEOR • HEOR kickoff happened. Family focus groups Thursday + Friday at the conference. • Survey comes early 2027 . This is patient-led research we need families to complete — data for payers, clinicians, behavior/anxiety burden and future access to treatment. https://www.eurekalert.org/news-releases/1148569 WHAT WE’VE BEEN UP TO • Milken Institute Patient Advocacy Forum — “If it’s done right, it’s not done alone.” • UT-Arlington — partnership discussions around how SYNGAP1 can be part of ambitious new work. • Phoenix Children’s + COMBINEDBrain — Kathryn: partnership poised to “level up multidisciplinary care and clinical trial capacity.” Families + COMBINEDBrain helping bring patient expertise into trial planning. https://www.linkedin.com/posts/kathryn-syngap-research-fund_a-huge-thank-you-from-all-pediatric-rare-ugcPost-7515853296868229120-d0VM • Theme: strategic collaboration — more institutions, more partners, more people doing the work. SYNGAP1 AL DÍA • New Spanish-language S10-style podcast hosted by Fernanda + Carlos Caparros of CURE SYNGAP1 LATAM. https://cureSYNGAP1.org/ALDia SOCIAL MATTERS 5,333 LinkedIn. https://www.linkedin.com/company/cureSYNGAP1 1.63k YouTube. https://www.youtube.com/@CureSYNGAP1 Like + subscribe https://cureSYNGAP1.org/podcasts/syngap10 Episode 223 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

October 2, 2026Episode 2229 min

1,871 #SYNGAP1 Census, COMBINEDBrain RR-RGND, Conference Dinner/Drinks & $200K Unlock Match #S10e222

Friday, October 2, 2026 — Week 40 CENSUS — 1,871 AND GROWING • Q3 census: 1,871 known patients, +65 this quarter . • First patient in Rwanda. USA +11, China +16, Brazil +6, France +4 . • Finding patients matters more than ever as trials approach. https://cureSYNGAP1.org/Census COMBINEDBRAIN — RARE RESEARCH ROUNDTABLE • Wonderful Rare Research Roundtable on Genetic Neurodevelopmental Disorders. COMBINEDBrain is a gift to the rare neuro community — hug them when you see them. https://combinedbrain.org/RR-RGND • Dr. Emma James of Encoded, chair of our IAB, posted about the meeting. https://www.linkedin.com/posts/emma-james-71759a1a_the-combinedbrain-research-roundtable-on-ugcPost-7511223599165472768-jDkI CURE SYNGAP1 CONFERENCE — DENVER • 9 Family Legacy Sponsors , up from 8 in 2025. • Thursday Rare Reception — free, register: https://cureSYNGAP1.org/RR26 • Friday Family Dinner at Henry’s: https://cureSYNGAP1.org/Henrys • Conference registration ends OCT. 31 . https://cureSYNGAP1.org/Reg26 UNLOCK THEIR TOMORROW • Q4 goal: $500,000 by Dec. 31 , including a $200,000 match . • Families can start their own fundraiser; anyone can donate. https://cureSYNGAP1.org/Unlock • Your Idea. Your Fundraiser. Your SYNGAP1 Impact. https://curesyngap1.org/blog/your-idea-your-fundraiser-your-syngap1-impact COMMUNITY ACTION • RARE Disease Week 2027, March 2-4, in DC. Travel reimbursement applications are open; deadline Nov. 6 . https://bit.ly/4jo7fku • RARE Foundation travel reimbursement post: https://www.facebook.com/share/p/1EeF8jTWFi• Sign up for ARI: https://cureSYNGAP1.org/Ari WARRIORS — JACK • Jack is a 3-year-old from Berkeley who missed early milestones and was diagnosed with SYNGAP1 around age 3 after eyelid-fluttering episodes led to EEG, MRI and genetic testing. https://curesyngap1.org/syngap-warriors/jack-w NEWSLETTER #52 • All the latest news and links in one place: https://cureSYNGAP1.org/NL52 • Subscribe: https://cureSYNGAP1.org/Newsletter PUBMED + SCIENCE • PubMed 2026: 54. +14 vs Week 40. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date USA - Use your ICD-10: F78.A1 SOCIAL MATTERS 5,301 LinkedIn. https://www.linkedin.com/company/cureSYNGAP1 1.63k YouTube. https://www.youtube.com/@CureSYNGAP1 11.0k X. https://twitter.com/cureSYNGAP1 43.4k Instagram. https://www.instagram.com/cureSYNGAP1 Like + subscribe wherever you listen. https://cureSYNGAP1.org/podcasts/syngap10 Episode 222 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

September 26, 2026Episode 2219 min

CAMP4 ASCEND Webinar + #SYNGAP1 Goes Global: Argentina, UN, Newborn Screening & Jaxon in ICU #S10E221

Saturday, September 26, 2026 — Week 39 CAMP4 ASCEND — WEBINAR #131 - SYNGAP1 ASCEND Phase 1/2 Trial: What You Need To Know. - Monday, Sept. 28 — 12 PM PT / 3 PM ET / 19:00 UTC. - Families: come hear directly from CAMP4 + ask your questions. https://cureSYNGAP1.org/AscendCT ARGENTINA — PATH TO THE CLINICAL TRIAL - CAMP4 + LATAM hybrid meeting: “Path to the Clinical Trial in Argentina.” - Remember how they got here: THE CONFERENCE. Community → relationships → trial readiness. - Recording: https://youtu.be/UuhOIzSEKH4 SYNGAP1 LEADERS REPRESENTING OUR COMMUNITY - Incoming Board Chair Eric Moulton at Newborn Screening Bootcamp in DC. Critical that SYNGAP1 is involved in NBS — find patients sooner. Thank you RARE Foundation. https://www.rareadvocates.org/newborn-screening-bootcamp/ - Vicky Arteaga + Allison Hirsch represented CURE SYNGAP1 at Rare Diseases International at the UN. https://www.linkedin.com/posts/rare-diseases-international_unga81-rarediseases-globalhealth-activity-7508918814357610496-xtZS WARRIORS - Wednesday Warrior #237: Matteo in NYC — happy 1st birthday! https://cureSYNGAP1.org/Warrior TAKE RESPIRATORY SERIOUSLY — JAXON IN ICU - Aaron Harding documented Jaxon’s ICU experience day-by-day. A difficult family experience worth reading directly. Add serrapeptase to your regime. - Aaron’s posts: https://www.facebook.com/aaron.j.harding.5 - Willsey paper: https://pmc.ncbi.nlm.nih.gov/articles/PMC11885846/ Another paper is coming soon. COMMUNITY IN ACTION - LATAM: One Voice for SYNGAP1 — VOCES! https://cureSYNGAP1.org/Voces - Auburn Delta Sigma Phi + Wyatt Jones: Delta Sig for SYNGAP1. https://cureSYNGAP1.org/auburn26 CURE SYNGAP1 CONFERENCE — DENVER - Dec. 3–4. Science Day: 156 registered. Family Day: 137, including 27 kids/Syngapians. - REGISTRATION ENDS OCT. 31. Hotel rooms going fast — register + book now. https://cureSYNGAP1.org/Reg26 PUBMED + SCIENCE - PubMed 2026: 54. +15 vs Week 39. Last year finished at 61, +9 vs the year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date - NEW: Pekka Postila team — years of CURE SYNGAP1 support + partnership studying missense mutations. - Molecular modeling supports canonical RasGAP + Plexin-like RapGAP mechanisms; missense variants can disrupt protein stability AND catalysis; other insights. - Paper: https://doi.org/10.1016/j.yjsbx.2026.100162 USA: Use ICD-10 code F78.A1. SOCIAL MATTERS 5,288 LinkedIn. https://www.linkedin.com/company/cureSYNGAP1/ 1.62K YouTube. https://www.youtube.com/@CureSYNGAP1 11.1K X. https://twitter.com/cureSYNGAP1 43.7K Instagram. https://www.instagram.com/cureSYNGAP1/ Like + subscribe wherever you listen. https://cureSYNGAP1.org/podcasts/syngap10/ Episode 221 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

September 21, 2026Episode 2209 min

ASCEND Trial Webinar + #SYNGAP1 Warriors, Biobank, HEOR & Industry News #S10E220

Monday, September 21, 2026 — Week 39 CAMP4 ASCEND TRIAL — WEBINAR #131 CAMP4’s SYNGAP1 ASCEND Phase 1/2 Trial — What You Need To Know. Tuesday, Sept. 29 — 12 PM ET / 9 AM PT. REGISTER https://curesyngap1.org/calendar/webinar-131-camp4-syngap1-ascend-phase-1-2-trial/ SCRAMBLE FOR SYNGAP — 12 DAYS 5th Annual — Oct. 3, Greer, SC. Julie + family back on WSPA 7 News — including some very real family moments. SOLD OUT. Five years of building awareness + community. https://youtu.be/GcD58deUPtU Event: https://cureSYNGAP1.org/Scramble WARRIORS — KEEP TELLING THE STORIES NEW: Weston, 22 — diagnosed only 6 months ago. Late diagnosis! https://cureSYNGAP1.org/Warrior Will was Warrior #21 at age 9. He’s now 16. https://cureSYNGAP1.org/Will Kiera — Warrior #172 — now 6. https://cureSYNGAP1.org/Kiera These stories matter. Keep sharing them. COMBINEDBrain BIOBANK — ONLY 2 LOCATIONS LEFT Boston — Oct. 8–9. Denver — Dec. 3–4 at the CURE SYNGAP1 Conference. Email Lauren@cureSYNGAP1.org. HEOR — DOCUMENTING THE REAL BURDEN Building our Health Economics & Outcomes Research work with payers & clinicians in mind. Anxiety + behavior management matter. e.g. Rett: 323 caregivers — https://pubmed.ncbi.nlm.nih.gov/42570201/ e.g. Angelman: U.S. study of 105 caregivers estimated average annual caregiving economic impact at $79,837 — 53% from employment impacts/lost productivity. https://pubmed.ncbi.nlm.nih.gov/39985061/ HELP WANTED — PRESS We have a backlog of CURE SYNGAP1 press releases. Know PR / communications? We need help. Volunteer skills matter just as much as fundraising. IONIS — ANGELMAN Ionis published a community letter after the GTX-102/ASPIRE results. Relevant follow-up to my discussion in E217. Read it directly — 2’MOE https://assets.ctfassets.net/qj7dcdpo5rmb/nBQEr7TJQIyexzQu229Dl/a5ae4fff28861385532da0c8390b1c30/PA-US-AS-260005_-_Community_Statement_on_Status_of_Obudanersen_Program_-_FINAL_-_Sept_2026.pdf ULTRAGENYX — CONGRATULATIONS FDA FULL APPROVAL for FAYUVI / UX111 for Sanfilippo syndrome Type A. First-ever FDA-approved treatment for MPS IIIA. Single-dose IV AAV9 gene therapy. Second approved gene therapy for RARE. https://ir.ultragenyx.com/news-releases/news-release-details/ultragenyx-announces-approval-fayuvitm-gene-therapy-first-ever UPCOMING SHOOT FOR SYNGAP1 — Nov. 14, Hurricane, UT https://cureSYNGAP1.org/Shoot FIGHT FOR FELIPE — Nov. 28, Boston https://cureSYNGAP1.org/Fight CURE SYNGAP1 CONFERENCE — Dec. 3–4, Denver https://cureSYNGAP1.org/Reg26 PUBMED50 SYNGAP1 publications in 2026 — +11 vs. Week 39. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date USA: Use your ICD-10, F78.A1 SOCIAL MATTERS 5,268 LinkedIn — +28 since E219. https://www.linkedin.com/company/curesyngap1 1.62k YouTube. https://www.youtube.com/@CureSYNGAP1 Like and subscribe wherever you listen. https://cureSYNGAP1.org/podcasts/syngap10 Episode 220 of #Syngap10 #RareDisease #CureSYNGAP1 #PatientAdvocacy

September 11, 2026Episode 2199 min

UK MHRA Approves CAMP4 ASCEND + USA Today + Rare-X/Citizen Health + 6 Things #S10E219

Friday, September 11, 2026 — Week 37 CAMP4 — ASCEND EXPANDS TO THE UK UK MHRA authorizes UK sites in CAMP4's Phase 1/2 CMP-002 trial. UK joins Australia + Argentina. EU filing remains under review. First-in-human trial still targeted to begin Q4 2026. Another major step toward our first disease-modifying clinical trial. https://investors.camp4tx.com/news-releases/news-release-details/camp4-therapeutics-receives-authorization-united-kingdom-phase CAMP4 ANALYST DAY — SEPT. 28 12–1:30 PM ET. Trial design + unmet need + early pipeline. CURE SYNGAP1 participating https://investors.camp4tx.com/news-events/events We will have a day after, webinar, stay tuned for details. USA TODAY — SYNGAP1 IN PRINT SYNGAP1 family story appeared in USA TODAY's national print edition this week. Families need education, care + support TODAY. https://www.usatoday.com/story/life/health-wellness/2026/09/01/kids-special-education-school-shortage-care/90851980007/ RARE-X + CITIZEN HEALTH Global Genes selects Citizen Health technology to power RARE-X. Important for us: ProMMiS uses Rare-X; CURE SYNGAP1 already works with Citizen. https://www.prnewswire.com/news-releases/global-genes-partners-with-citizen-health-to-power-rare-x-302870871.html SIX THINGS U.S. FAMILIES CAN DO Our Take Action page is LIVE. Don't just read it. Keep coming back until you've done all six. https://curesyngap1.org/TakeAction IEP HELP — CITIZEN HEALTH Oct. 4: IEP deep dive + Q&A with Staci Zimmerman, M.Ed. Register https://curesyngap1.org/calendar/what-nobody-tells-you-about-ieps-citizen-health-webinar/ RESEARCH — HELP WANTED 2-year SYNGAP1 postdoc — Sapienza University of Rome. Patient iPSCs, cortical neurons + brain organoids. Deadline Sept. 30. Know someone? Amplify it. https://www.sins.it/job_offer/postdoctoral-position-available-at-sapienza-university-of-rome/ COMMUNITY QUICK HITS NEW WARRIOR: Felipe, age 3. Parents Brian + Alana organizing Fight for Felipe. Want to fundraise? New support form: https://cureSYNGAP1.org/Fundraise Café SYNGAP1 #40 + #41: GRIN2A + GRIN2B communities. https://cureSYNGAP1.org/Cafe Night of Impact recap live. Time to start planning the next one. https://cureSYNGAP1.org/SF26Recap UPCOMING EVENTS — COUNTDOWN SHOOT FOR SYNGAP1 — 64 DAYS November 14 — Hurricane, UtahAiming for a Cure — Shooting for Hope https://cureSYNGAP1.org/Shoot FIGHT FOR FELIPE — 78 DAYS November 28 — Boston, Massachusetts https://cureSYNGAP1.org/Fight CURE SYNGAP1 CONFERENCE — 83 DAYS December 3–4 — Denver, Colorado https://cureSYNGAP1.org/Reg26 USA 🇺🇲: Use your ICD-10, F78.A1 SOCIAL MATTERS 5,240 LinkedIn — https://www.linkedin.com/company/curesyngap1 1.62k YouTube https://www.youtube.com/@CureSYNGAP1 43.7k Instagram https://www.instagram.com/curesyngap1 Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 219 of #Syngap10 #SYNGAP1 #RareDisease #CureSYNGAP1 #PatientAdvocacy

September 8, 2026Episode 2189 min

USA Today, Synchrony Conf, #EEC2026, Portugal & Family Resources — #CureSYNGAP1 in Action #S10E218

Tuesday, September 8, 2026 — Week 37 DON’T MISS ASO UPDATE Episode 217 came out over the weekend. Don't miss it. There was lots of ASO news in there. https://www.linkedin.com/feed/update/urn:li:activity:7502544874399928322/ NATIONAL PRESS USA TODAY Special-needs care / education crisis — and a SYNGAP1 family featured. Diagnosis and future therapies aren't enough. Families need care, education and support today. https://www.linkedin.com/posts/bernadette-basilico-6924b29a_a-two-year-postdoctoral-position-with-share-7500493855591432192-sOD6/ https://www.usatoday.com/story/life/health-wellness/2026/09/01/kids-special-education-school-shortage-care/90851980007/ ADVOCACY UPDATE SYNCHRONY — PALO ALTO KAH + I attended the BRAIN Foundation's Synchrony symposium. The autism community is starting to wake up to neuroinflammation, and mental health psychiatrists are really working hard on this topic. There are also people looking more at the impact of diet. https://brainfoundation.org/synchrony-symposia/ ILAE #EEC2026 — ATHENS Virginie + Jaime + Vicky + Katrine representing SYNGAP1 at the 16th European Epilepsy Congress, Sept. 5–9. https://www.ilae.org/eec2026 Virginie’s Post: https://www.linkedin.com/posts/virginie-mcnamar_eec2026-ugcPost-7502600886368559105-LPbu/ THINGS YOU CAN DO RIGHT NOW 1. GENEDX SURVEY How has getting a SYNGAP1 diagnosis improved your child's care? 5 minutes. Worth it. Please do it. https://curesyngap1.org/GDXsurvey 2. ARI / CITIZEN HEALTH Sign up. Longitudinal medical records → research-ready data. This is clearly the future. https://citizen.health/ari/syngap1 3. SYNGO SYNGAP1 resource for families from LATAM, ask it to speak English! https://curesyngap1.org/syngo COMMUNITY GROWTH AND SUCCESS CURE SYNGAP1 PORTUGAL 🇵🇹 Congratulations to the Portuguese SYNGAP1 community — legal organization established + website live. Special applause for Henrique’s leadership . Another national organization building local advocacy and community. https://curegyngap1-portugal.org/en SCRAMBLE FOR SYNGAP — SOLD OUT Congratulations to the Scramble team — the 5th Annual Scramble for SYNGAP is SOLD OUT. 25 days to go. A great example of a community building momentum year after year. https://mailchi.mp/796f3e59d71b/the-scramble-for-syngap-is-sold-out UPCOMING EVENTS — COUNTDOWN SHOOT FOR SYNGAP1 — 67 DAYS November 14 — Hurricane, UtahAiming for a Cure — Shooting for Hope https://cureSYNGAP1.org/Shoot FIGHT FOR FELIPE — 81 DAYS November 28 — Boston, Massachusetts https://cureSYNGAP1.org/Fight CURE SYNGAP1 CONFERENCE — 86 DAYS December 3–4 — Denver, Colorado https://cureSYNGAP1.org/Reg26 PUBMED 50 SYNGAP1 publications in 2026. +13 vs. Week 37 . https://pubmed.ncbi.nlm.nih.gov/42692765/ Last year finished at 61 publications — +9 vs. the year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date USA 🇺🇲: Use your ICD-10, F78.A1 SOCIAL MATTERS 5,220 LinkedIn — https://www.linkedin.com/company/curesyngap1 1.61k YouTube https://www.youtube.com/@CureSYNGAP1 11.1k X https://x.com/cureSYNGAP1 43.7k Instagram https://www.instagram.com/curesyngap1 Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 218 of #Syngap10 #SYNGAP1 #ASO #AngelmanSyndrome #AlexanderDisease #RareDisease #CureSYNGAP1 #PatientAdvocacy

September 6, 2026Episode 2179 min

#Angelman ASO Fails, #AlexanderDisease ASO Wins: #SYNGAP1 CAMP4 ASO? NYT on Clinical Trials #S10E217

Sunday, September 6, 2026 — Week 36 🛑 If you're reading this on social media, these show notes are going to get cut off. Please go to the podcast homepage and click on episode 217 to get the full show notes. https://curesyngap1.org/podcasts/syngap10 On September 3, the FDA approved ZANVASTRO — zilganersen — from Ionis (IONS) for Alexander disease. It is the first FDA-approved treatment for Alexander disease and the first therapy to directly target the underlying protein buildup driving the disease. Alexander disease is caused by mutations in GFAP . Zilganersen reduces production of abnormal GFAP protein. https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-treat-alexander-disease On September 2, Ultragenyx (RARE) announced results from its Phase 3 Aspire trial of apazunersen, formerly GTX-102 , for Angelman syndrome. The trial failed its primary endpoint — change from baseline in Bayley-4 cognitive raw score. It also failed its key secondary endpoint — the Multidomain Responder Index, or MDRI. And there were no differences between the treated and control groups supporting efficacy in Bayley cognition, the MDRI, or any of the five individual domains that make up the MDRI. https://ir.ultragenyx.com/news-releases/news-release-details/ultragenyx-announces-phase-3-aspire-results-angelman-syndrome Financial analyst take on the failure was brutal: “A complete double miss, with no data to argue about.” But this does not conclude that the underlying Angelman ASO strategy has been disproven. Broader read-through: “We think the mechanism still works, and the constraint was dose.” GTX-102 had a history of transient lower-extremity weakness. (Good to have multiple shots on goal.) Look at slides 10 and 11 of Oak Hill Bio's July investor presentation filed with the SEC. Oak Hill had already been making the case that the Angelman ASOs are not interchangeable . On slide 10, Oak Hill presents primate data showing nearly full restoration of paternal UBE3A production after a single dose of rugonersen, versus a much more modest reported effect from GTX-102. Importantly, Oak Hill itself notes that this was not a head-to-head study . Then look at slide 11. Oak Hill presents data claiming rugonersen is 20–100 times more potent at inducing UBE3A protein than the other Phase 3 Angelman ASOs. And its description of the Ultragenyx molecule is remarkably direct: “GTX-102 was dose limited.” These are Oak Hill's claims and company-presented preclinical data — but they made this argument before Aspire failed . https://www.sec.gov/Archives/edgar/data/2118032/000119312526316954/d101725dex992.htm Ultragenyx had encouraging earlier-stage data. Families appeared to be seeing improvements. Investigators saw improvements. The company saw improvements. Then came a randomized, sham-controlled Phase 3 trial. And it did not confirm efficacy. That is an important lesson for all of us in rare disease drug development: Phase 1/2 data are not Phase 3 data. THE NEW YORK TIMES — GETTING TO A CLINICAL TRIAL IS HARD There was also a New York Times piece this week that I think everyone following drug development should read. How extraordinarily difficult it has become to actually run clinical trials and get experimental medicines into patients. That means companies are looking outside the United States for places where trials can move more efficiently. CAMP4 has regulatory clearance to begin its first-in-human SYNGAP1 trial in Australia and Argentina . That's not an accident. The geography of clinical drug development is changing. The New York Times article is largely looking at this through the lens of cancer drug development today — but rare genetic disease is confronting the same challenges. .... Episode 217 of #Syngap10 #SYNGAP1 #ASO

August 31, 2026Episode 2169 min

Big Week for #SYNGAP1: Trials, Data, #Epilepsy, Palo Alto & Athens #S10E216

Sunday, August 30, 2026 — Week 36 Australia and Argentina cleared. EU and UK filings underway. First-in-human Phase 1/2 study still targeted for Q4 2026. CMP-002 is designed to increase expression of the healthy SYNGAP1 copy. CAMP4 raised another $50M and reports cash runway through the end of 2028. Q2 earnings / corporate update: https://investors.camp4tx.com/news-releases/news-release-details/camp4-reports-second-quarter-2026-financial-results-and Rare-X is our PRO partner for the ProMMiS Natural History Study. IMPORTANT: Families participating in ProMMiS need to complete their Rare-X surveys within SEVEN DAYS of their ProMMiS Natural History Study visit date. We need the patient/caregiver-reported data to line up with the clinical visit data. ProMMiS: https://curesyngap1.org/resources/studies/syngap1-prommis/ Rare-X: https://cureSYNGAP1.org/RAREX If you missed the Ari webinar, the recording is now available. https://cureSYNGAP1.org/AriWeb Please call us to set up your fundraisers. Please do not use Facebook fundraising unless it's an emergency. Kathryn and I are attending the BRAIN Foundation’s Synchrony 2026 scientific summit in Palo Alto. A chance for CURE SYNGAP1 to stay close to work happening across autism, neurology, genetics, biomarkers and therapeutics. https://brainfoundation.org/synchrony-symposia/ Virginie is heading to Athens for the 16th European Epilepsy Congress, September 5–9. If you are going to be at the ILAE meeting in Athens, Greece, reach out to Virginie and connect with CURE SYNGAP1 in person. https://www.ilae.org/eec2026 UPCOMING EVENTS — COUNTDOWN SCRAMBLE FOR SYNGAP — 34 DAYS October 3 — Greer, South Carolina5th Annual Scramble for Syngaphttps://cureSYNGAP1.org/Scramble SHOOT FOR SYNGAP1 — 76 DAYS November 14 — Hurricane, UtahAiming for a Cure — Shooting for Hopehttps://cureSYNGAP1.org/Shoot FIGHT FOR FELIPE — 90 DAYS November 28 — Boston, Massachusettshttps://cureSYNGAP1.org/Fight CURE SYNGAP1 CONFERENCE — 95 DAYS December 3–4 — Denver, ColoradoEarly bird pricing ends August 31!https://cureSYNGAP1.org/Reg26 PubMed 2026 is at 49. +2 since Episode 214. +13 vs. the week. Last year finished at 61, +9 vs. the year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date Coolest new paper: TBE on EEG. https://pubmed.ncbi.nlm.nih.gov/42620081/ USA 🇺🇲: Use your ICD-10, F78.A1 5,195 LinkedIn. +36 since Episode 214. https://www.linkedin.com/company/curesyngap1 1.61k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 43.7k Insta https://www.instagram.com/curesyngap1 Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 216 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy TRIALS & DATA — CAMP4, RARE-X + ProMMiSCAMP4 / CMP-002Rare-X + ProMMiSARI WEBINARFUNDRAISE WITH USCURE SYNGAP1 ON THE ROAD — BRAIN FOUNDATIONILAE — EUROPEAN EPILEPSY CONGRESSPUBMEDSOCIAL MATTERS

August 30, 2026Episode 2159 min

#AdamsCamp & Tony in Denver: Support, Progress & Open Issues, taking a break from #LakeMary #S10e215

Tony with us for a week after five months away… Way less screen addicted More independent Chubby - Less exercise, worse food Depressed Adam’s Camp was great as usual The support model was striking: the camper-to-therapist ratio was close to one-to-one, with skilled professionals in speech, occupational, physical, and behavioral therapy. SYNGAP1 Connection at Camp! This was Tony’s fifth consecutive year at https://adamscamp.org/ . That continuity made a difference. The Adam’s Camp team knew Tony well, and he was a known quantity to them. The team did a fabulous job. Even though Tony can be challenging at this age, and is bigger and sometimes aggressive, everything went smoothly at camp. More time in Denver. We visited Dr. Abbott at CHOC. For families looking for pediatric dental support in Denver, see Dr. Z at https://www.lakesidekidsdentistry.com/ . Who will also start seeing kids at https://www.childrenscolorado.org/doctors-and-departments/departments/dental/ The hard parts There were still a couple of moments of aggression within our family. I do not want to pretend those moments disappeared; there is more work to do. The harder news came after Tony returned to school. His unhappiness about being there has increased after being with family, and it feels as though aggression may be moving in the wrong direction again. We are told this kind of transition is common for kids at his school, but that does not make the incident reports any less heartbreaking. Bringing him back was heartbreaking. Lorazepam. Open Questions What stayed with me is how well Tony did with people who knew him and a deeply skilled team supporting him. At his residential program, he also receives remarkable support. But at the end of the school year, he is expected to come home, and we are expected to recreate enough of that support with ABA and whatever additional help we can find. I do not have a neat conclusion. I am trying to understand what is best for Tony, what is best for John, and what is best for our whole family. I am sharing these questions because I suspect many families carry versions of them too. Related episodes & resources For the earlier Adam’s Camp conversation, watch #S10e110 https://www.youtube.com/watch?v=WBBEZPLRaBQ For the residential-care update, watch #S10e208 https://www.youtube.com/watch?v=ywDUuuGA8GA For a fuller personal conversation about this chapter in Tony’s life, listen to https://curesyngap1.org/podcasts/syngap1-stories/mike-graglia-may-2026-update Learn more about https://lakemary.org/ . Both the Adam’s Camp team and Dr. Z from Lakeside will have a booth at the CURE SYNGAP1 Conference in Denver on December 3–4 . Stop by to learn more and meet the team. https://curesyngap1.org/calendar/cure-syngap1-conference-2026-denver/ Like and subscribe to the CURE SYNGAP1 Podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Saturday, August 29, 2026 — Week 35 Episode 215 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy#Caregiving #DisabilitySupport #FamilyCaregiver #CaregiverSupport

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