Throw the doors open, build your team, tell everyone. #S10e64

TELL EVERYONE

- New mom chat

- Kali’s article and twitter

     - https://www.insider.com/my-child-diagnosed-rare-genetic-condition-syngap1-2022-6 

     - https://twitter.com/WorthKali

- Tavillas: https://syngap.fund/susan (6/22/15)

 

CHECK OUT THIS CONFERENCE: https://syngap.fund/treat

 

DRUG CO NEWS

- Anglemans and Ionis! https://www.prnewswire.com/news-releases/ionis-treatment-for-angelman-syndrome-receives-orphan-drug-and-rare-pediatric-disease-designations-from-us-fda-301566169.html 

- Praxis update: At the end, scroll down. 

 

CIITIZEN

- Webinar was awesome https://syngap.fund/virginie

- Sign up! https://www.ciitizen.com/syngap1/

 

PROBABLY GENETIC IS WORKING!

- Assessment:  syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap/ 

- Webinar: https://syngap.fund/PG 

- Sponsored testing with Mahzi! https://mahzi.com/ 

 

REMEMBER NOT TO MISS

 - June 2022 https://mailchi.mp/syngapresearchfund.org/june22 

 - Sign up for the EF Panel: https://bit.ly/efmen   

 

FUNDRAISERS

- MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22  

- MICE: Help us Make 2!  https://syngap.fund/2mice 

 

EVENTS

- June 25 in DFW - Join us for a family meeting and hear from Dr. Perry.  Link soon.

- September 12-14 in San Diego - #GlobalGenes Meeting.  Link soon.

- October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala 

- October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap  

- November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 

- December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat 

 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast  

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 

 

Episode 64 of #Syngap10 - June 14, 2022

#F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration #EpilepsyFoundation #Praxis #ProbablyGenetic #Mahzi

 

Copy from letter from Praxis:

Monday morning, June 6th, we published an 8K filing announcing news involving multiple programs at Praxis Precision Medicines. One of these announcements pertained to the FDA’s clinical hold on our recent IND filing for PRAX-222 in SCN2A, so we wanted to share further context for it.

On May 25, 2022, the Company received a communication from the U.S. Food and Drug Administration (the “FDA”) providing additional information on the clinical hold placed on the Company’s Investigational New Drug application (the “IND”) for the study of PRAX-222, an antisense oligonucleotide, for the treatment of patients with SCN2A gain-of-function mutations. The communication indicated that our IND could be cleared once we submit additional documentation related to the preclinical non-human primate toxicology study that supports the proposed starting dose in the clinical study. We’re requesting a Type A meeting with the FDA to confirm the study design and further clarify the requirements for dose escalation beyond the starting dose. This surely will leave our SCN2A community with questions about the timing of our path forward. While the protocol and the discussions being held with the FDA remain confidential, we will do our best to maintain transparency and responsiveness throughout the process.  

 

We continue to be fully committed to advancing PRAX-222 to clinical study. We also want to restate that this news is specific to PRAX-222, without impact on our PRAX-562 program for SCN2A, SCN8A and TSC. In Monday’s press release, we reiterated our focus on driving toward proof of concept for PRAX-562. We’ll provide further updates on PRAX-562 as we approach major milestones on this path. In addition, our other programs in PCDH19 and SYNGAP1 remain on-track.  

 

Beyond epilepsy, Monday’s 8K filing announced significant news pertaining to our Aria study of PRAX-114 in Major Depressive Disorder (MDD). It is with great regret that we announce the failure of the Aria Study, a study to determine the efficacy of a GABBA PAM extrasynaptic preference medicine to achieve fast-acting, lasting reduction of symptoms of MDD. After reviewing the data and our operational controls and observing failure to achieve our primary endpoint, we determined that PRAX-114 was indeed safe but not efficacious, and no further research and development of PRAX-114 is warranted. This conclusion has a negative impact on the study of PRAX-114 to treat Post-Traumatic Stress Disorder and Essential Tremor. This is a difficult decision for the Praxis team; but our commitment and capacity to researching and developing genetic insight-based treatments for people living with disorders of the CNS is in no way diminished.