Health-Related Quality of Life in Huntington?s Disease Research and Practice: De

描述（由申请人提供）：NIH路线图认识到“迫切需要更好地量化临床重要症状和结局，包括疼痛、疲劳和生活质量。“NIH路线图已经导致了前所未有的大量与健康相关的生活质量（HRQOL）测量发展计划，用于：1）普通人群（由NIH资助）; 2）成人癫痫、中风、肌萎缩侧索硬化症、多发性硬化症和帕金森病（由NINDS资助）; 3）脊髓损伤（由NCMRR和NINDS资助）;和4）创伤性脑损伤（由NIDRR和VA RR&D资助）。尽管采取了这些措施，但缺乏用于最具破坏性和最具破坏性的疾病之一亨廷顿病（HD）的HRQOL测量。HD是一种致命的、隐匿的、进行性神经退行性疾病，其特征是运动、认知和精神功能的异常，这些异常逐渐出现并恶化，直至最终导致死亡。最近，HD基因鉴定的发展推动了旨在恢复功能和治疗继发性并发症的临床试验，从而重新燃起了治愈这种致命疾病的希望。目前，缺乏能够评估临床治疗有效性的HD特异性、严格的HRQOL结局指标;需要有效的HD特异性HRQOL指标来准确测量临床和研究结局。具体而言，这项研究将复制国家的最先进的定性方法的上述项目中使用的HD通过使用基于社区的伙伴关系，以确定相关的HRQOL领域/主题在HD和开发项目，反映这些领域/主题。将纳入由患有或有风险患有HD的个人（“消费者”）、家庭成员和护理人员以及HD专业人员组成的焦点小组，以确定与HD生活质量相关的重要问题/主题。焦点小组的成绩单将由两名独立的调查人员进行审查，以确定主要内容领域，并制定HD中HRQOL领域的初始列表;这些领域将为项目开发提供初始结构。在这项研究完成后，未来的资金将寻求测试和验证这些项目，并将包括一个连贯的，全面的，国家的最先进的方法，采用经典和当代的测试建设和验证方法，包括项目反应理论和计算机自适应测试技术。这个试点项目，结合这项未来的工作，将填补一个显着的空白，开发一个有意义的，有效的和简洁的衡量HRQOL用于HD临床试验的结果测量。公共卫生相关性：尽管亨廷顿病（HD）基因鉴定的发展推动了寻找这种致命疾病的有效治疗方法，但目前的评估措施缺乏确定此类治疗对健康相关生活质量（HRQOL）有效性所需的灵敏度。本研究的目的是开发一个敏感的和有意义的结果测量HRQOL的人与HD。这样的测量将与身体功能、情感功能、参与和不良事件的测量（如联合亨廷顿疾病评定量表）一起作为HD临床试验的核心结果测量。

DESCRIPTION (provided by applicant): The NIH Roadmap recognizes a "pressing need to better quantify clinically important symptoms and outcomes, including pain, fatigue, and quality of life." The NIH Roadmap has lead to an unprecedented number of large-scale initiatives for health-related quality of life (HRQOL) measurement development initiatives for use in: 1) the general population (funded by NIH); 2) adult epilepsy, stroke, amyotrophic lateral sclerosis, multiple sclerosis, and Parkinson's disease (funded by NINDS); 3) spinal cord injury (funded by NCMRR and NINDS); and 4) traumatic brain injury (funded by NIDRR and the VA RR&D). Despite these initiatives, there is a paucity of HRQOL measures for use with one of the most devastating and debilitating diseases, Huntington's disease (HD). HD--a fatal, insidious, progressive neurodegenerative disease--is characterized by abnormalities in motor, cognitive, and psychiatric functions that gradually appear and worsen until eventually causing death. Recently, the development of gene identification in HD has led to a push for clinical trials designed to restore functioning and treat secondary complications, leading to renewed hopes about finding a cure for this deadly disease. Currently, HD-specific, rigorous outcomes measures in HRQOL that are capable of evaluating the effectiveness of clinical treatments are lacking; a valid HD-specific measure of HRQOL is needed to accurately measure both clinical and research outcomes. Specifically, this study will replicate the state-of-the art qualitative methodology of the aforementioned projects for use in HD by using a community based partnership to identify relevant HRQOL domains/themes in HD and develop items that reflect these domains/themes. Focus groups consisting of individuals with or at-risk for HD ("consumers"), family members and caregivers, and HD professionals will be included to identify the important issues/themes related to quality of life in HD. Transcripts from the focus groups will be reviewed by two independent investigators in order to identify major content areas and develop an initial list of HRQOL domains in HD; these domains will provide an initial structure for item development. Upon completion of this study, future funding will be sought to test and validate these items and will include a coherent, comprehensive, state-of-the-art approach, employing both classical and contemporary methods of test construction and validation including Item Response Theory and computerized adaptive testing technology. This pilot project, in conjunction with this future work, will fill a significant void by developing a meaningful, valid and concise measure of HRQOL for use in outcome measurement of HD clinical trials. PUBLIC HEALTH RELEVANCE: Although the development of gene identification in Huntington's disease (HD) has led to a push to find effective treatments for this fatal condition, current assessment measures lack the sensitivity needed to determine the effectiveness of such treatments on health-related quality of life (HRQOL). The purpose of this study is to develop a sensitive and meaningful outcome measure of HRQOL in persons with HD. A measure like this will be used alongside measures of physical functioning, emotional functioning, participation, and adverse events (such as the United Huntington's Disease Rating Scale) as a core outcome measure for clinical trials in HD.