All #SYNGAP1 Families need to take part in our Natural History Studies: ProMMiS & Citizen #S10e198

Thursday, February 5, 2026 - Week 6

Happy #RareDisease & #BlackHistory Month!

 

#NaturalHistory means how this disease progresses.  Reminder: We have only been at this for 17 years, first patients were identified via Hamdan, 2009. https://pubmed.ncbi.nlm.nih.gov/19196676/

 

Retrospective Digital NHS: cureSYNGAP1.org/Citizen (Growing list of tools available to families, for free)

 

Prospective Multi-disciplinary Multi-site NHS: ProMMiS cureSYNGAP1.org/ProMMiS

 

Reminder, only possible by CS1 support for non-CHOP sites and travel plus huge gift to Penn. https://www.chop.edu/news/25-million-gift-penn-medicine-and-children-s-hospital-philadelphia-establishes-center-epilepsy

 

Potential for being a control arm in the future.

 

Protocol: https://www.linkedin.com/posts/curesyngap1_syngap1-stxbp1-dee-activity-7425223573134327808-SVEQ & early data: https://pubmed.ncbi.nlm.nih.gov/40119723/

 

Join the ~160 families who have enjoyed excellent clinical care and contributed tot he future of SYNGAP1.  Today, a 4 month old is going!

CHOP: 119 new, V2- 67, V3- 32, V4- 10, V5- 4

CHCO: 37 new, V2- 7

Stanford: 8 new, V2- 2

Total: 164 (double counting one family who goes to multiple sites)

 

Survey

English: https://curesyngap1.org/SurveyProMMiS Spanish: https://curesyngap1.org/encuestaProMMiS

 

94 Responses to survey, so far:

Why not? Did not receive an invitation, Too far to travel, Too expensive

Barriers: Logistics, Cost, Time off, Behaviors, Insurance

 

ETC.

Pubmed 2026 is at 6!  But will soon be 7 with the McKee paper!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

 

Biorepository needs more samples.  Check out the list and map here https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit?usp=sharing and contribute blood.  The data and research we do with these samples is invaluable.

 

May 28, San Francisco, CA: cureSYNGAP1.org/SF26

 

SOCIAL MATTERS

4,668 LinkedIn.  https://www.linkedin.com/company/curesyngap1/

1,520 YouTube.  https://www.youtube.com/@CureSYNGAP1

11.2k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1/

 

$CAMP stock is at $3.59 on 5 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

 

Like and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/

Episode 198 of #Syngap10 #CureSYNGAP1 #Podcast