Mentored Patient Oriented Research Career Development

描述（由申请人提供）：申请人是一名神经科医生， 在儿科和成人神经肌肉疾病方面具有丰富的临床经验。 该奖项将使她获得培训和指导，成为一名 专注于神经肌肉疾病的独立临床研究者。 的 教育计划包括讲授流行病学，统计学， 临床试验设计和卫生政策。 DMD是一种相对常见的致命疾病， 儿童遗传性疾病，在世界各地的发病率相同。 的 这项研究的目标是进行治疗性人类临床试验， 化学物质显示，以提高肌肉力量的mdx。 的目标 建议的研究计划是：1）进行双盲，安慰剂对照， 肌酸和L-谷氨酰胺治疗DMD患者的三组临床试验， 评估这些化合物对肌肉力量的影响（通过测量） 手动肌肉测试（MMT），定量肌肉测试（QMT）和其他 功能测量。 目的2是进行一项双盲安慰剂- 辅酶Q10在DMD患者中的对照临床试验， 评估其对以下方面的影响：a）肌肉力量，通过QMT，复合医学测量 研究理事会（MRC）评分和功能测量; B）运动能力， 通过疲劳性协议进行测量;以及c）生活质量，将被测量 儿童健康问卷调查 目的3是验证 儿童QMT系统测量最大随意等长收缩 在DMD儿童中的顺序。 这些研究将在 儿科临床研究中心（PCRC）在儿童的国家医疗 中心（CNMC），乔治敦综合临床研究中心的卫星 （GCRC）。 将涉及PCRC的三个核心：生物统计学核心， 遗传学核心实验室和生物分析核心实验室。 在 此外，为了提高本研究的统计效力，申请人 组建了一个国际合作小组， 方案并将数据提交给CNMC的研究中心。 未来的研究 将测试其他几种有潜力提高肌肉力量的药物， DMD

DESCRIPTION (provided by applicant): The applicant is a neurologist and has extensive clinical experience in pediatric and adult neuromuscular diseases. This award will allow her to obtain the training and mentoring to become an independent clinical investigator focusing on neuromuscular disorders. The educational plan includes didactic courses covering epidemiology, statistics, clinical trial design and health policies. DMD is a relatively common fatal genetic disease in children, with equal incidence throughout the world. The goal of this research is to conduct therapeutic human clinical trials with chemicals shown to improve muscle strength in the mdx. The aims of the proposed research plan are: 1) to conduct a double-blind, placebo-controlled, three-arm clinical trial of creatine and L-glutamine in patients with DMD and to assess the effect of these compounds on muscle strength as measured by manual muscle testing (MMT), quantitative muscle testing (QMT) and other functional measurements. Aim 2 is to conduct a double-blind, placebo- controlled clinical trial of coenzyme Q10 (CoQ10) in patients with DMD to assess its effects on: a) muscle strength, measured by QMT, compound Medical Research Council (MRC) score and functional measures; b) exercise capacity, to be measured by a fatigability protocol; and c) quality of life, to be measures by the Child Health Questionnaire. Aim 3 is to validate the specificity of the pediatric QMT system measuring maximal voluntary isometric contraction sequentially in children with DMD. The studies will be conducted at Pediatric Clinical Research Center (PCRC) at the Children's National Medical Center (CNMC), satellite to Georgetown General Clinical Research Center (GCRC). Three cores of the PCRC will be involved: the Biostatistics Core, the Genetics Core Laboratory and the Bioanalytical Core Laboratory. In addition, to increase the statistical power of this study, the applicant has assembled an international collaborative group that will conduct identical protocols and submit the data to the study center at CNMC. Future studies will test several other drugs with potential to improve muscle strength in DMD.