Pareyson Davide, Schenone Angelo, Fabrizi Gian Maria, Santoro Lucio, Padua Luca, Quattrone Aldo, Vita Giuseppe, Gemignani Franco, Visioli Francesco, Solari Alessandra
Department of Biochemistry and Genetics, C. Besta National Neurological Institute, Via Celoria 11, 20133 Milan, Italy.
Pharmacol Res. 2006 Dec;54(6):436-41. doi: 10.1016/j.phrs.2006.09.001. Epub 2006 Sep 9.
There is no treatment for Charcot-Marie-Tooth disease 1A (CMT1A), but ascorbic acid (AA) is efficacious in the transgenic mouse model. Thus, a clinical trial of AA in CMT1A is warranted. The CMT-TRIAAL is a phase III randomized, double-blind, placebo-controlled study involving 222 CMT1A adults from eight Italian centers. Eligible for the study are symptomatic adults with genetically confirmed CMT1A. Treatment consists of 2-year oral AA (1500mg/day) or placebo. The primary trial endpoint is an improvement in CMT Neuropathy Score. Secondary efficacy endpoints are changes in distal arm and leg maximum voluntary isometric contraction; 10m timed walking; 9-hole-peg test; overall neuropathy limitations scale; pain and fatigue visual analog scales; health-related quality of life (SF-36); and electrophysiology. Clinical-electrophysiological assessments are performed at baseline and every 6 months thereafter. In consenting patients from three centers, skin biopsy is performed to evaluate PMP22 expression. The study will last 34 months, starting from March 2006.
目前尚无针对1A型遗传性运动感觉神经病（CMT1A）的治疗方法，但抗坏血酸（AA）在转基因小鼠模型中显示出疗效。因此，有必要对CMT1A患者进行AA的临床试验。CMT-TRIAAL是一项III期随机、双盲、安慰剂对照研究，涉及来自意大利八个中心的222名CMT1A成年患者。符合条件的是经基因确诊为CMT1A的有症状成年人。治疗为期两年，采用口服AA（1500毫克/天）或安慰剂。主要试验终点是CMT神经病变评分的改善。次要疗效终点包括上肢和下肢远端最大自主等长收缩的变化；10米定时步行；9孔插针试验；总体神经病变限制量表；疼痛和疲劳视觉模拟量表；健康相关生活质量（SF-36）；以及电生理学指标。在基线时以及此后每6个月进行一次临床电生理评估。在来自三个中心的同意参与研究的患者中，进行皮肤活检以评估PMP22的表达。该研究从2006年3月开始，为期34个月。
