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:
https://curesyngap1.org/resources/webinars/webinar-111-introduction-to-praxiss-emerald-study-for-syngap1-patients/
 
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
FDA Breakthrough. https://www.globenewswire.com/news-release/2025/07/17/3117145/0/en/Praxis-Precision-Medicines-Receives-FDA-Breakthrough-Therapy-Designation-for-Relutrigine-for-the-Treatment-of-Seizures-Associated-with-SCN2A-and-SCN8A-Developmental-and-Epileptic-E.html
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

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