Sydney Stelmaszek is Emmitt’s Mom and a member of the SynGAP Research Fund Board of Directors. On behalf of SRF, Sydney serves as the Relationship Manager with CHOP as well as being involved with patient engagement in the SYNGAP1 community. Sydney also shared her experiences and what to expect when going to CHOP in this blog. You can read more about ENDD: https://curesyngap1.org/endd/
The world of Syngap was surprised and excited to learn earlier this year that an anonymous $25 million gift had been made to the Children’s Hospital of Philadelphia (CHOP) to establish the Center for Epilepsy and Neurodevelopmental Disorders (ENDD). The two anchor disorders which the Center will first focus on treating are STXBP1 and, yes!, our own SYNGAP1. SYNGAP1-affected families have long been traveling to CHOP to receive care and advice from Dr.Helbig and his team at ENGIN, the Epilepsy and Neurogenetics Initiative.
However, ENDD will now be able to allocate substantial time and resources to collecting information from SYNGAP1 patients and families which will prepare us for clinical trials. This is especially exciting because we have promising work on treatments already taking place at the University of Pennsylvania (the educational institution associated with CHOP) with Drs. Ben Prosser and Liz Heller. You can hear a quick breakdown of all the news related to this study in episode 105 of Mike’s Syngap10 podcast.
Why the Natural History Study at CHOP is such a win for the Syngap community (and why we need our families to participate):
- We’re used to endlessly raising funds for the research we value most. In this case, the research CHOP will undertake is extremely valuable for moving us towards treatments and SRF is not paying for it; it’s already covered (thanks anonymous donor!).
- CHOP is a world-class clinical and research institution. Pediatric neurologist Ingo Helbig and team have seen dozens and dozens of Syngapians, making them one of the most knowledgeable SYNGAP1 teams on the planet.
- We have a high density of patients in the northeast, making the region accessible for many families to participate.
- The Natural History Study is working in tandem with UPenn researchers we support who are already hard at work on developing multiple treatments for SYNGAP1.
Why CHOP’s study is such a win for YOU and YOUR LOVED ONE:
- CHOP’s study is being run as both a research study and a clinic visit. This means that you will have the opportunity to ask the CHOP team your questions about treatment options, your loved one’s development, and other items that you may like a second and very well-informed opinion on.
- The information we receive from this study will be instrumental in making sure that endpoints can be identified when treatments become available through clinical trials for our loved ones. The CHOP team wants to “ENDD” excuses for treatable genetic conditions to continue to affect our loved ones and want to deliver a treatment that will improve their lives.
A tremendous gift has been given to our community in the opportunity to participate in CHOP’s Natural History Study. SRF would love nothing more than to inundate their team with patients from which they can receive multiple forms of data to design a clinical trial for the therapies being developed down the road at UPenn.
See the graphic below for more information about the study. If you are interested in participating, send an email with your child’s name, date of birth, and your location to email@example.com. Please cc firstname.lastname@example.org and email@example.com.
Finally, if you desire to participate in the study but are prevented from doing so due to cost, please send an email to firstname.lastname@example.org to find out more about SRF’s ability to help. We are committed to helping families who otherwise wouldn’t be able to participate by reimbursing up to $1,000 against receipts from each trip to CHOP. Information can be found here (en español).