The Development and Use of a Disease-Specific Instrument for Myotonic Dystophy

强直性肌营养不良专用疾病仪器的开发和使用

• 批准号: 7629024
• 负责人: Chad Rydel Heatwole
• 金额: $ 12.96万
• 依托单位: UNIVERSITY OF ROCHESTER
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-07-01 至 2013-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7629024
• 关键词: Address; Adult; Area; Clinical; Clinical Investigator; Clinical Research; Clinical Trials; Development; Disease; Educational workshop; Environment; Evaluation; Facility Designs; Facioscapulohumeral Muscular Dystrophy; Family member; Funding; Goals; Health; Institutes; K-Series Research Career Programs; Laboratories; Longitudinal Studies; Master of Science; Measures; Mentors; Mentorship; Muscular Dystrophies; Myopathy; Myotonic Dystrophy; Patient Monitoring; Patients; Population; Public Health; Quality of life; Recruitment Activity; Registries; Research; Research Personnel; Shapes; Statistical Methods; Techniques; Testing; Therapeutic; Training; Translational Research; authority; career development; functional status; health related quality of life; indexing; instrument; instrumentation; lectures; multidisciplinary; neuromuscular; novel; response; theories; treatment response

DESCRIPTION (provided by applicant): Myotonic dystrophy is the most common adult muscular dystrophy in the world. Despite an emergent need, no disease-specific, quality-of-life instrument has ever been developed for this population. If funded, this K-23 application will address this need while providing the ideal environment for Dr. Heatwole to complete his training enroute to becoming an independent researcher of novel evaluation techniques and experimental therapeutics for muscle diseases. Specifically, it is our goal to: 1) Identify the symptomatic and functional areas most relevant to myotonic dystrophy type-1 patients; 2) Develop a question set capable of measuring these domains; 3) Test the responsiveness of this question set in a longitudinal study; 4) Utilize item response theory and advanced statistical methods to develop a responsive and reproducible instrument from this question set; 5) Incorporate this instrument into one current and two planned clinical trials of myotonic dystrophy patients; and 6) Develop additional disease-specific instruments for facioscapulohumeral muscular dystrophy and the more recently described myotonic dystrophy type-2. We hypothesize that this project will positively shape public health by enabling researchers to measure treatment responses in myotonic dystrophy via a valid, efficient set of disease-specific questions. In addition, through these projects, we plan to lay the methodological and technical framework needed for the development of additional disease-specific instruments for muscular disorders. The mentored clinical investigator career development award in muscle disease research provides the ideal medium for Dr. Heatwole to become an independent neuromuscular researcher and authority on instruments of quality-of-life. Dr. Heatwole's career development will be facilitated by: 1) An expert multidisciplinary mentorship team; 2) Scientific didactic lectures and workshops leading to a Master of Science in Clinical Investigation; and 3) By direct access to the Clinical and Translational Science Institute's facilities designed specifically to conduct and promote clinical research. By the end of the K-23 funding period it is Dr. Heatwole's explicit plan to have a nationally recognized laboratory established in both myotonic dystrophy experimental therapeutics and muscle disease quality-of-life instrumentation.

描述（申请人提供）：肌强直性营养不良症是世界上最常见的成人肌肉营养不良症。尽管有迫切的需求，但还没有为这一人群开发出针对特定疾病的生活质量仪器。如果获得资助，这个K-23申请将满足这一需求，同时为heather woll博士提供理想的环境，以完成他的培训，成为肌肉疾病新评估技术和实验治疗的独立研究员。具体来说，我们的目标是：1)确定与1型肌强直性营养不良患者最相关的症状和功能区域；2)制定一个能够衡量这些领域的问题集；3)在纵向研究中测试该问题集的反应性；4)利用项目反应理论和先进的统计方法，从这个问题集中开发一个反应性和可重复性的工具；5)将该仪器纳入肌强直性营养不良患者的一项当前和两项计划临床试验；6)为面肩肱骨肌营养不良症和最近描述的2型肌强直性营养不良症开发额外的疾病专用仪器。我们假设，该项目将使研究人员能够通过一套有效、有效的疾病特异性问题来衡量强直性肌营养不良症的治疗反应，从而积极地塑造公共卫生。此外，通过这些项目，我们计划为开发针对肌肉疾病的其他特定疾病的仪器奠定所需的方法和技术框架。肌肉疾病研究指导临床研究者职业发展奖为heather woll博士成为一名独立的神经肌肉研究者和生活质量仪器权威提供了理想的媒介。希特沃尔博士的职业发展将得到以下方面的促进：1)多学科专家指导团队；2)科学教学讲座和研讨会，培养临床研究理学硕士；3)直接使用临床和转化科学研究所专门为开展和促进临床研究而设计的设施。在K-23资助期结束时，hethole博士的明确计划是在肌强张性营养不良实验治疗和肌肉疾病生活质量仪器方面建立一个全国认可的实验室。