Phase II Therapeutic Trial of Mexiletine in Non-Dystrophic Myotonia (IND #77,021) CINCH 5306. Homo sapiens

Non-dystrophic myotonias are a group of rare muscle disorders caused by abnormalities in different muscle cell membrane proteins. Patients experience delayed muscle relaxation that causes impaired physical activity, stiffness, and pain. Mexiletine has been shown to be beneficial for symptoms of myotonia in case reports of patients with non-dystrophic myotonia, however, current management of these patients primarily depends on individual practitioners' preference. This study is a placebo-controlled, double-blind, cross-over treatment trial using mexiletine in non-dystrophic myotonias. The results, if positive, will permit the identification of mexiletine as an effective therapy for myotonia, making it a first-line therapy for patients with non-dystrophic myotonia. The specific aim of this proposal is to perform a randomized, double-blind, placebo-controlled cross-over study to assess whether mexiletine improves both quantitative and qualitative measures... (for more see dbGaP study page.)

非营养不良性肌强直症（Non-dystrophic myotonias）是一类因多种肌细胞膜蛋白异常所引发的罕见肌肉疾病。患者会出现肌肉舒张延迟的症状，进而引发活动能力受损、肌肉僵硬及疼痛。美西律（Mexiletine）在非营养不良性肌强直症患者的病例报告中，已被证实可改善肌强直相关症状，但目前此类患者的临床诊疗方案主要取决于接诊医师的个人偏好。本研究为一项针对非营养不良性肌强直症患者、采用美西律干预的安慰剂对照双盲交叉治疗试验。若本试验结果呈阳性，将确认美西律作为肌强直有效治疗手段的地位，使其成为非营养不良性肌强直症患者的一线治疗方案。本研究方案的核心目标为开展一项随机、双盲、安慰剂对照交叉试验，以评估美西律能否同时改善肌强直的量化与质化评估指标……（更多详情请参见dbGaP研究页面）