Effects of Mexiletine on Colonic Transit in a Patient With a Known SCN5A A997T Mutation
试验速览
- 阶段
- 1 期
- 状态
- 已完成
- 发起方
- Mayo Clinic
- 入组人数
- 1
- 主要终点
- change in the 48 hour Colon Transit
研究概览
简要总结
To understand if Mexiletine will restores normal colonic motility in a patient with irritable bowel syndrome - constipation (IBS-C) and a genetic mutation in SCN5A.
详细描述
To understand if Mexiletine will restore normal colonic motility in a patient with a missense mutation in SCN5A, which encodes a voltage-sensitive sodium channel NaV1.5 as it is known to rescue certain expression defects of NaV1.5 in vitro.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 60 Years 至 70 Years（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Established IBS diagnosis with a known A997T mutation in NaV1.5T
排除标准
- •Normal 48-hour baseline transit study
- •Current use of mexiletine
- •Inability to stay in Rochester for 9 days for testing
- •Known allergy to mexiletine
- •Inability to complete daily diary
- •Taking a medication known to affect myotonia, had a coexisting neuromuscular disease, or had another serious medical illness including second- or third-degree heart block, atrial flutter, atrial fibrillation, ventricular arrhythmia, history of cardiac arrhythmia requiring medication, congestive heart failure, symptomatic cardiomyopathy, or symptomatic coronary artery disease
- •Inability to withdraw medications known to interact with mexiletine. Patient is currently not on any of these medications
研究组 & 干预措施
Mexiletine
6-day treatment period during which the medication will be taken orally with an initial dose of: 200 mg every 8 hours for 3 doses on day 3, increasing to 300 mg every 8 hours on days 4 and 5 (6 doses), and increasing further to 400 mg every 8 hours on days 6-8 if no telemetry changes and no dose limiting side effects
干预措施: Mexiletine (Drug)
结局指标
主要结局
change in the 48 hour Colon Transit
时间窗: Baseline to 10 days
Colon transit will be measured using validated scintigraphy methods conducted in our Clinical Research Unit (CRU).\[17, 18\] The participant will ingest a Tc-99m labeled sulfur colloid in egg to be used as a stomach marker and ln-111 chloride bound to activated charcoal enclosed in a methacrylate-coated capsule to measure colonic transit.
次要结局
未报告次要终点