THERAPEUTIC TRIAL IN PATIENTS W/ LQTS 3 GENE MUTATION

LQTS 3 基因突变患者的治疗试验

• 批准号: 6263800
• 负责人: ARTHUR J. MOSS
• 金额: $ 1.48万
• 依托单位: UNIVERSITY OF ROCHESTER
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6263800
• 关键词: arrhythmia; clinical research; electrocardiography; gene expression; gene mutation; human subject; human therapy evaluation; long QT syndrome; mexiletine

Families will be studied who have been identified to have a mutation in the Gene (SCN5A) which is responsible for the cellular changes that produce a long QT. The gene is located on chromosome #3 and has been named LQT3. The aim of this study is to provide new insights into more effective therapy to prevent irregular heart rhythms (arrhythmias) in this particular form of LQTS. This will be done by testing the effectiveness of a sodium channel-specific drug, mexiletine, in shortening the QT interval on the electrocardiogram.

将对已被确认有基因突变(SCN5A)的家庭进行研究，该基因是导致产生长QT的细胞变化的原因。该基因位于3号染色体上，被命名为LQT3。这项研究的目的是为更有效地预防这种特殊形式的LQTS的心律失常(心律失常)提供新的见解。这将通过测试钠通道特异性药物美西律在缩短心电图QT间期方面的有效性来实现。