Recap on AES 2022

SCN8A is on the map!

The International SCN8A Alliance team was thrilled to be at the American Epilepsy Society (AES) meeting in early December of last year. It was clear from our time in Tennessee that SCN8A is really on the map — people are talking about our community and excited to learn more about us.

Before AES even started, JayEtta Hecker, our fearless Executive Director, spent several days in Memphis representing just one of six rare epilepsy groups at the inaugural meeting of the St. Jude Children’s Research Hospital’s new Pediatric Translational Neuroscience Initiative. This is an exciting new initiative focused on genetics and the promise of precision medicine in pediatric epilepsies. The last eight years of investments in early career basic research was on full display as many of the talks mentioned the work of our current and previous grantees.

JayEtta then met up with Gabi Conecker (President) and Dr. Michael Hammer (our Chief Scientific Officer) in Nashville where we spent our time at AES sharing what we are learning from our community via the **International SCN8A Registry **and our extensive work to improve the lives of those living with SCN8A and their families.

Throughout the meeting we met with 7 pharmaceutical companies—both those already working in SCN8A and others we are courting—to share the comprehensive data our community has collected via the Registry and how this data is helping to document the wide range of experiences for those living with SCN8A.

Michael gave 4 presentations in Nashville and it was clear from the feedback we received that people are interested in SCN8A and amazed at what we are learning from the Registry. There is no doubt that the treasure trove of information being collected is helping advance opportunities for new research and treatments in SCN8A.

At an Investigators Workshop panel we helped plan—with 300 people in the room and standing room only —Dr. John Schreiber opened with some background on SCN8A, the complex disorder we are learning it truly is and how we need to do better at measuring the progress children make both in clinical trials and in their daily life. Michael then presented about the diverse subgroups emerging in analysis of the 8 year longitudinal, global Registry and Gabi spoke about life with SCN8A and shared the work from our Inchstone Project—which is a collaborative between patient advocates, pharmaceutical companies, experts and researchers experienced in developing outcome measures—working to develop outcome measures that capture every inchstone (not milestone) of progress that kids more severely impacted by disorders make.

Top L — Gabi presenting at a workshop on SCN8A and how we can better measure progress in our children; Dr. John Schreiber, Michael Hammer, Gabi Conecker & JayEtta Hecker; Bottom L — Panel discussion; Michael presenting on the Registry and it’s many findings.

We were also excited to share about the International SCN8A Alliance’s ongoing effort to develop the First Global Consensus for the Diagnosis and Treatment of SCN8A-Related Disorders. Several of the global doctors involved stopped by and others who we met at the meeting were photoshopped in to create this seamless team photo.

A mash up photo of some of the clinicians working on the treatment guidelines we saw at AES.

On Monday, Michael gave a very well received presentation on the SCN8A Registry during the Pediatric State of the Art symposium led by Dr. Scott Perry (Co-Chair of the Treatment Guidelines work). This symposium, “Addressing Knowledge Gaps in Early Life Epilepsy,” was geared towards exploring recent research into the diagnosis and management of early onset epilepsies, highlighting effective evaluation and treatment strategies, and exploring methods to evaluate therapies. Michael’s talk encompassed all these topics and nailed how pivotal the kind of data collection we do via our Registry is to early identification of SCN8A and finding the best possible treatments.

Core to our mission is finding better treatments for those living with SCN8A, so we are always looking for opportunities to bring more drug developers into our community. The International SCN8A Alliance held meetings with seven pharmaceutical companies — those already working in SCN8A, Praxis and Neurocrine, as well as companies we met to share more about our community and the extensive work we have done to document the variety of experiences in our children.

Many meetings! Top row Left-Right— Rare Epilepsy Meeting agenda with a flier for the Epilepsies Action Network project we helped co-found and run; Michael Hammer, Elena Gardella and Gabi Conecker; IFCR Research Update Meeting; Middle row, L-R — Meeting with key partners; Dravet Syndrome Foundation Research Update; Chris Makinson, former Alliance grantee, and Gabi; Bottom L-R — JayEtta Hecker, Dr. Ingrid Scheffer, Dr. Bill Gaillard, Gabi; Brandy Fureman, Alison Zetterquist, Laura Lubbers, Gabi & JayEtta.

We met with researchers already deep into working on SCN8A as well as those new to research into SCN8A and the genetic epilepsies. We heard about new exciting research into CRISPR for SCN8A, new labs taking on the disorder and potential new collaborations emerging for the Alliance and leading research labs. We were also thrilled to see many of our previous grantees featured as speakers at AES and continuing to work in this field.

The work of the SCN8A Registry, along with our critical work to develop the first diagnosis and treatment guidelines gained a lot of attention at the meeting But by far, the best part was getting hug and spend time with so many of the incredible families in our community. See you next year in Orlando!

To learn more about SCN8A, volunteer or connect with us, visit our website — scn8aalliance.org