患者领导和伙伴关系加速SCN8A和其他发育性和性脑病变的治疗方法
Gabrielle Conecker1, JayEtta Hecker2, Michael F Hammer3
1International SCN8A Alliance, 1234 Crittenden St NW, Washington, D.C. 20011, USA.
Therapeutic advances in rare disease
|February 24, 2025
概括
家庭在推进SCN8A研究和治疗方面至关重要. 患者倡导通过团结利益相关者和优先考虑患者需求以获得更好的结果来加速治疗发展.
科学领域:
- 遗传学和神经学 遗传学和神经学
- 罕见疾病 罕见疾病
- 患者倡导 患者倡导
背景情况:
- 与SCN8A相关的缺乏有针对性的治疗方法,这给家庭带来了紧迫性.
- 家庭处于一个独特的位置,可以推动研究和治疗开发.
- 国际SCN8A联盟 (联盟) 团结了家庭,以推进SCN8A科学.
研究的目的:
- 突出家庭倡导在加速SCN8A研究中的关键作用.
- 展示国际SCN8A联盟的多方面的方法来推进SCN8A科学和护理.
- 展示患者倡导如何加快新疗法的发展.
主要方法:
- 召开科学会议,促进多学科合作.
- 资助早期调查人员,以促进研究.
- 建立和维护国际SCN8A自然历史数据注册表.
- 与关键利益相关者培养战略伙伴关系.
- 协调全球社区参与和宣传工作.
- 为全球协调建立全球SCN8A领导人联盟.
- 制定全球SCN8A研究路线图,以确定研究重点.
主要成果:
- 该联盟促进了研究人员,临床医生和行业之间的协调.
- 该SCN8A注册表已经产生了关键的自然历史数据,导致出版.
- 建立的合作伙伴关系包括一个研究联盟,全球临床医生网络,以及关于诊断和治疗的共识.
- 全球社区参与团结家庭和倡导者跨类型.
- 全球SCN8A研究路线图确定了推动SCN8A护理的重点优先事项.
- 家庭倡导组织在加速治疗发展方面表现出重大影响.
结论:
- 家庭倡导是SCN8A研究和治疗进步的强大催化剂.
- 国际SCN8A联盟有效地召集利益相关者和资源,以解决SCN8A问题.
- 以患者为中心的优先事项和协作努力对于改善SCN8A.等罕见疾病的结果至关重要.
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