The 2019 SCN8A Research Roundtable took place in Chapel Hill, North Carolina in July. This event brought together a select group of key SCN8A professionals for an intensive strategic planning meeting. Over a day and a half of meetings, participants focused on the state of SCN8A research, collaborate on grant efforts, and outlined next steps necessary to translate the scientific understanding of SCN8A into improved treatments and outcomes for individuals living with SCN8A. We believe the collaborative work between family advocacy groups, clinicians, researchers, and industry partners in driving research forward is key.
This year a very special team will be walking at the Walk to End Epilepsy hosted by Epilepsy Foundation of Metropolitan New York: Luke's Walk for Epilepsy.
Luke is one of the approximately 350 children in the world known to have SCN8A-related epilepsy--and his family is so eager to help find better treatment for Luke and the other children with SCN8A mutations. As a result, the Epilepsy Foundation of Metropolitan New York has generously agreed to donate half of the money Luke's team raises to The Cute Syndrome Foundation in support of SCN8A.
Can you help them reach their goal of $50,000?
Two weeks ago, Praxis Precision Medicines invited TCSF to their home base in Cambridge MA to talk to them about SCN8A community and to see how they can help—not just to help better treat SCN8A, but to do so as well as possible because they understand our experiences living with it.
Last week, Xenon announced that they had received positive feedback from the FDA regarding the development of XEN901 that supported advancing XEN901 directly into a pediatric clinical trial examining its efficacy in pediatric patients with SCN8A epileptic encephalopathy (SCN8A-EE). This is important as most Anti-Epileptic Drugs (AEDs) have to be studied in adults before they are studied in pediatric populations.
Pilot Research Project with Children's National: Evaluating Education and Access to Expert Care for SCN8A
The Cute Syndrome Foundation is thrilled to share the awarding of a clinical research grant, originally announced at our 2018 SCN8A Clinician, Researcher, and Family Gathering, to Dr. John Schreiber and Children's National. The vision for this grant developed after the devastating loss of two infants in our SCN8A community last fall, and we are grateful to Dr. Schreiber for working with us to look for ways to improve access to expert advice in the treatment of individuals with SCN8A.
The Cute Syndrome Foundation is announcing the departure of Juliann Bradish, PharmD, as our Co-executive Director. Juliann will be remaining on as a volunteer at TCSF, turning her focus toward the administration of our support group. Juliann began volunteering for TCSF in 2015, serving as our SCN8A Advisor. She then joined Founder Hillary Savoie, PhD, as Co-executive Director in 2017.
Juliann with her family at our 2016 SCN8A Clinician, Researcher, and Family Gathering
On November 30 and December 1st The Cute Syndrome Foundation held our fourth annual SCN8A Clinician, Researcher, and Family Gathering, in conjunction with the American Epilepsy Society meeting in New Orleans, LA. We were joined by more than 100 medical professionals, industry representatives, and family members as we presented two days of important activities—including discussions of SCN8A research, forthcoming potential therapeutics, and parent/patient perspective.
In December 2017 The Cute Syndrome Foundation hosted the third annual SCN8A Epilepsy Clinician, Researcher, and Family Gathering in Washington, DC.
Over 100 guests met, including professionals working on SCN8A research and treatment and more than 75 members of our SCN8A family community, including 14 children with SCN8A. Families traveled internationally from Canada, Germany, Brazil, and New Zealand.
The Cute Syndrome Foundation is celebrating the First International SCN8A Awareness Day on February 9th with the other family-based advocacy organizations including Ajude o Rafa and Wishes for Elliott, as well as individual families are reaching out to share the story of the grave impacts of this newly identified epilepsy. For more information about SCN8A Awareness Day visit: www.scn8aawarenessday.net
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