Pathogenesis and treatment of the periodic paralyses

周期性麻痹的发病机制和治疗

• 批准号: 6887849
• 负责人: Robert C Griggs
• 金额: $ 3.55万
• 依托单位: UNIVERSITY OF ROCHESTER
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-09-15 至 2005-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6887849
• 关键词: familial periodic paralysis; inborn metal metabolism disorder; meeting /conference /symposium; membrane channels; neuromuscular disorder; pathologic process; travel

DESCRIPTION (provided by applicant): The periodic paralyses are rare neuromuscular diseases which were among the first channelopathies to be defined by their specific gene mutations. The periodic paralyses have overlapping clinical phenotypes but remarkably, the causative gene lesions involve Na, K, Ca, and CI channels. Despite the wealth of information on the pathophysiology of each periodic paralysis there remain many questions concerning the phenotypic variation of patients with similar or even identical mutations. The periodic paralyses are genetically heterogeneous and there continue to be many patients with periodic paralysis whose mutations have not been discovered. While there are no approved or standard treatments for any periodic paralysis, there are a number of logical candidates suitable for clinical trials. NINDS has funded a multicenter, randomized, controlled trial of treatment of hyperkalemic and hypokalemic periodic paralysis that will begin enrollment soon. Moreover, an ORD/NINDS-funded project is focused on developing novel treatments for the recently-characterized periodic paralysis, Andersen-Tawil syndrome. This grant requests support for a two-day meeting to be held in Bethesda, MD that will bring together international basic, clinical neuroscientists and representatives of lay organizations with a research focus on the periodic paralyses. The meeting's goals will be (1) to summarize the current understanding of the pathophysiology of the periodic paralyses and focus on unresolved dilemmas concerning their pathogenesis; (2) to consider the rationale for various treatment strategies; (3) and consider how the relatively well understood periodic paralyses can inform the broader field of channelopathy research.

描述（由申请人提供）：周期性瘫痪是罕见的神经肌肉疾病，是最早由其特定基因突变定义的通道病。 周期性瘫痪的临床表型重叠，但值得注意的是，致病性基因病变涉及Na，K，Ca和Ci通道。 尽管有关每种周期性瘫痪的病理生理学的大量信息仍然存在许多有关相似突变甚至相同突变患者的表型变异的问题。 周期性瘫痪在遗传上是异质的，并且仍然有许多周期性瘫痪的患者未发现突变。 尽管没有任何周期性瘫痪的批准或标准治疗方法，但有许多适合临床试验的逻辑候选者。 NINDS资助了一项多中心，随机，对照的高钾血症和低毒周期性瘫痪试验，该试验将很快开始入学。 此外，由ORD/NINDS资助的项目重点是为最近特征的周期性瘫痪（Andersen-Tawil综合征）开发新的治疗方法。 这项赠款要求支持为期两天的会议在医学博士贝塞斯达举行的为期两天的会议，该会议将把国际基本的临床神经科学家和非专业组织的代表召集在一起，研究重点是定期瘫痪。 会议的目标将是（1）总结对周期性瘫痪的病理生理学的当前理解，并关注有关其发病机理的未解决困境； （2）考虑各种治疗策略的理由； （3）并考虑相对了解的周期性瘫痪如何为通道疗法研究的更广泛领域提供信息。