Conecker Gabrielle, Hecker JayEtta, Hammer Michael F
International SCN8A Alliance, 1234 Crittenden St NW, Washington, D.C. 20011, USA.
International SCN8A Alliance, Washington, D.C., USA.
Ther Adv Rare Dis. 2025 Feb 20;6:26330040241252449. doi: 10.1177/26330040241252449. eCollection 2025 Jan-Dec.
Families are a driving force in accelerating the understanding and science of SCN8A. 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. The International SCN8A Alliance (Alliance) brings families together to collaborate on advancing the science of SCN8A. The Alliance hosts SCN8A facilitating coordination and collaboration among clinicians, researchers, industry, and the SCN8A community; funds early investigators to - building a new generation of investigators; builds and maintains a robust and dedicated International (Registry) providing longitudinal data on the natural history of the disorder and leading to over two dozen publications; cultivates with key stakeholders to accelerate innovation and progress including a Research Consortium, Global Clinicians Network, and the first global Consensus on the Diagnosis and Treatment of SCN8A; coordinates global by hosting families in virtual meetings in multiple languages and uniting advocates from across all epilepsies to call for more strategic and expanded investment in the epilepsies; builds and hosts the () promoting coordination and collaboration among leaders of SCN8A organizations worldwide; and advances a () - convening leading stakeholders in the SCN8A community to identify research priorities and accelerate progress toward better care, treatments, and outcomes. The outsized impact of small family advocacy organizations demonstrates that patient advocates can be effective agents in accelerating new therapeutics through maximizing their power to convene diverse stakeholders around a shared vision grounded in patient/caregiver priorities, maintaining a core focus on improving outcomes that are most important to families, and recognizing the importance of being bold, thinking big, and collaborating across disease areas.
家庭是加速对SCN8A的理解和相关科学研究的一股推动力量。面对孩子无药可治的情况，家庭所感受到的紧迫性使他们在通过宣传、数据共享和建立伙伴关系来推进治疗方法方面具有独特的优势。国际SCN8A联盟将各家庭聚集在一起，共同推进SCN8A的科学研究。该联盟主办SCN8A相关活动，促进临床医生、研究人员、行业以及SCN8A领域各方之间的协调与合作；资助早期研究人员，培养新一代研究人员；建立并维护一个强大且专门的国际登记处，提供该疾病自然病史的纵向数据，并据此发表了二十多篇论文；与关键利益相关者建立合作关系，以加速创新和进步，包括成立一个研究联盟、全球临床医生网络，并达成关于SCN8A诊断和治疗的首个全球共识；通过以多种语言举办虚拟会议让家庭参与其中，并团结所有癫痫领域的倡导者，呼吁对癫痫研究进行更具战略性和更广泛的投资，从而协调全球行动；建立并主办全球SCN8A领导人论坛，促进全球范围内SCN8A组织领导人之间的协调与合作；推进一项战略计划，召集SCN8A领域的主要利益相关者确定研究重点，并加速朝着更好的护理、治疗和成果迈进。小型家庭宣传组织产生的巨大影响表明，患者倡导者可以成为加速新疗法研发的有效力量，他们可以通过最大限度地发挥召集各方围绕基于患者/护理人员优先事项的共同愿景的不同利益相关者的能力，始终将核心重点放在改善对家庭最重要的结果上，并认识到大胆思考、树立远大目标以及跨疾病领域合作的重要性。
