Partnering for Progress in the SCN8A Community

Families are desperate for improved treatments and outcomes for their children with SCN8A epilepsy and related disorders. An exciting new chapter is emerging as a diverse group of SCN8A patient advocacy leaders are coming together to coordinate and collaborate.

Participants in Our First SCN8A Global Leaders Meeting including SCN8A caregiver leaders from Italy, Brazil, Spain, Portugal, France, the Netherlands and the United States.

Collaborating for a Cure

The International SCN8A Alliance was created to serve as an umbrella organization that facilitates coordination among all those working in SCN8A in order to reduce duplication of efforts, improve quality of life and advance progress towards cures. We are focused on building effective alliances between all stakeholders — families, clinicians, researchers, and pharmaceutical companies—toward this shared goal.

Over the summer, the Alliance hosted our first meeting of leaders from SCN8A advocacy groups in eight different countries and is actively working to develop and deepen partnerships with leaders from a number of other global SCN8A organizations.

At that first meeting, it was clear that our global SCN8A community is blessed with many visionary leaders. During the inaugural SCN8A Global Leaders meeting, we heard an update from SCN8A mom and President of SCN8A Italy, Cinzia Scarcelli. She shared information about her foundation and an exciting new research project that SCN8A Italy is sponsoring to advance the Functional Characterization of SCN8A Variants.

Presentation on SCN8A Italia from Cinzia Scarcelli

Cinzia’s bold vision has also led to the creation of a European SCN8A Federation. She has inspired many European family leaders to start country-level SCN8A organizations who are now working together in a European-wide coalition offering a robust mix of programming, research, and advocacy. In fact, be on the lookout for more information about the next European meeting SCN8A Europe will hold in partnership with SCN2A groups in March 2023!

We’ve had two meetings so far and the synergies will only continue to grow .Our quarterly partner meetings will be a place for us to continue thinking about how we can build systems to more rapidly and efficiently advance progress in SCN8A.

Family Advocates Advancing SCN8A Progress

Global SCN8A leaders have been driving the success of our community over the past decade. Working together, advocates for SCN8A children and families across the globe have built a global SCN8A longitudinal registry, established networks for scientists, researchers and clinicans to share information, collaborate and advance the understanding of SCN8A and care for those living with the disorder. The potential to more significantly accelerate progress toward better treatments and outcomes comes from improved coordination and collaboration of efforts, which these partners have agreed to do. In our first few meetings, we began visualizing the incredible progress we can make by working together.

One of the critical requirements for progress is accelerating the synthesis of the lived experience of everyone with SCN8A. It is the families — the caregivers and their advocates — who collect and provide the data which documents the evolution of this highly heterogeneous disorder.

Among other shared goals, the Global SCN8A Leaders group will work jointly on efforts to improve the compatibility and robustness of the data on our children’s experiences so we can accelerate the pace of meaningful improvements in the quality of their lives.

Together, we are indeed making vital progress in partnering for progress toward our shared goal, accelerating the pace of progress toward better treatments and quality of life for our loved ones with SCN8A.

Certainly, a reason for hope and exciting partnership to come for the SCN8A community.