The Power of Patient Leadership and Partnerships: Accelerating SCN8A Treatments
Washington D.C. (FreePR.org) -- A newly published article titled “Patient leadership and partnerships accelerate therapies for SCN8A and other developmental and epileptic encephalopathies” spotlights the powerful role that families and caregivers can play in driving scientific progress for rare disorders. Appearing in Therapeutic Advances in Rare Disease, the article underscores how the International SCN8A Alliance (SCN8A Alliance) unites families, researchers, clinicians, and industry partners worldwide to fast-track better care and potential cures for SCN8A-related disorders.
SCN8A is a rare genetic condition affecting the Nav1.6 sodium channel in the brain, which can Cause severe seizures, developmental delays, behavioral dysregulation and other serious health challenges. The article highlights how families—facing limited treatment options—have mobilized to form the SCN8A Alliance, which has nurtured a thriving international research community. Highlights include establishing the International SCN8A Registry (capturing extensive data on hundreds of individuals), funding early-career investigators, and forging collaborations with key stakeholders. Additionally, the SCN8A Alliance recently led the first global consensus on SCN8A diagnosis and treatment, providing urgently needed guidance for families and clinicians around the world.
“Families are a driving force in accelerating the understanding and science of SCN8A,” the article explains. “The urgency felt by families facing the absence of treatments for their children makes them uniquely positioned to advance therapies through advocacy, data sharing, and partnerships.”
Leveraging robust caregiver-reported data, the SCN8A Alliance works closely with industry partners to design more targeted clinical trials—two of which are already underway. Beyond this, the article highlights the value of cross-disease collaboration through initiatives like the Epilepsies Action Network and The Inchstone Project, underscoring that breakthroughs for one rare epilepsy can inform progress in others. The authors also outline lessons learned for all patient-led groups: the power of convening stakeholders around shared priorities, maintaining a relentless focus on improving outcomes, and always being bold in scope and vision.
“A decade ago, families confronting SCN8A had virtually no path to answers—now, there’s an international registry, a global research consortium, and actionable consensus guidelines,” said Gabrielle Conecker, Co-Founder of the SCN8A Alliance and co-author of the article. “This trajectory is a testament to what determined caregiver advocacy can achieve across rare disease communities.”
About the International SCN8A Alliance
The International SCN8A Alliance brings together families, clinicians, researchers, industry leaders, and other advocacy partners committed to improving outcomes for individuals affected by SCN8A-related disorders. Through hosting scientific meetings, funding research, maintaining an international patient registry, and uniting a Global SCN8A Leaders Alliance, the organization fosters broad collaboration to ensure that scientific discoveries quickly translate into meaningful treatments and improved care.
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Contact Information:
Gabi Conecker, Executive Director
gabrielle.conecker@scn8aalliance.org
+1 202-599-0444
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