Novel Designs and Outcome Measures for Bench to Bedside Research on NMD

描述(由申请人提供)：本申请建议举办一次国际研究和培训研讨会，将资深临床/转化性研究人员与对开发神经肌肉疾病新疗法有共同兴趣的受训者聚集在一起。这些疾病在制定结果衡量标准和为少数患者设计试验方面构成了特殊的挑战。对大多数神经肌肉疾病病因的分子发现提出了新的治疗策略。考虑将分子发现带入精心设计的临床研究的翻译方法是及时和重要的。这次国际会议将在一个非正式的、与世隔绝的环境中举行，旨在扩大专业知识并指导初学临床/转化性研究人员的职业生涯。它将把高级调查人员、NIH项目工作人员和基金会代表以及初级/见习调查人员聚集在一起。会议将涵盖从板凳到床边肌肉疾病的一系列主题。会议的目的是：(1)提供一项关于神经肌肉疾病的翻译性、工作台到床边报告；关于分子神经肌肉疾病的科学报告；与罕见疾病相关的创新临床试验方法；以及对目前获得资助的神经肌肉疾病研究的展望。(2)为新学员提供机会，让他们了解神经肌肉疾病的研究，并参与味精和其他临床研究人员。(3)在成功的、受资助的调查方案框架内，在高级和初级调查人员和受训人员之间提供教育/科学互动。(4)为创意产生和职业发展提供指导环境。(5)提供“最先进”的信息和神经肌肉实验疗法的概述。这次国际会议将让科学家们齐聚一堂，讨论如何进行神经肌肉疾病新疗法的研究，关于疾病分子病因的新信息，以及研究人员合作的方式。在为神经肌肉疾病提供新疗法的努力中，这次会议将有助于进一步实现公共卫生目标。

DESCRIPTION (provided by applicant): This application proposes an international research and training seminar to bring together senior clinical/translational investigators with trainees who share a common interest in developing new treatments for neuromuscular disease. These disorders pose special challenges in terms of developing outcome measures and designing trials for small numbers of patients. Molecular discoveries of the causes of most neuromuscular diseases have suggested new treatment strategies. It is timely and important to consider translational approaches to bringing molecular discoveries into well-designed clinical studies. This international conference will be held in an informal, isolated environment in designed to expand the expertise and to mentor the career of beginning clinical/translational investigators. It will bring senior investigators, NIH program staff, and foundation representatives together with junior/trainee investigators. The conference will cover a range of topics from bench-to-bedside in muscle disease. The aims of the conference are: (1) To provide a program of: translational, bench-to-bedside presentations on neuromuscular diseases: scientific presentations on molecular neuromuscular disorders; innovative clinical trial methodology pertinent to uncommon diseases; and perspective on current funded studies in neuromuscular disease. (2) To provide opportunity for new trainees to learn about research in neuromuscular diseases and to become involved with the MSG and other clinical investigators. (3) To provide educational/scientific interactions among senior and junior investigators and trainees within a framework of successful, funded, investigative programs. (4) Provide a mentoring environment for idea generation and career development. (5) Provide "state-of-the-art" information and overview of neuromuscular experimental therapeutics. This international conference will bring together scientists to discuss ways to conduct studies of new treatments for neuromuscular diseases, new information about the molecular causes of the diseases, and ways for investigators to work together. In this effort to provide new treatments for neuromuscular disease, this conference will help to further public health goals.