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

亨廷顿病研究和实践中与健康相关的生活质量：De

• 批准号: 7640060
• 负责人: Noelle E. Carlozzi
• 金额: $ 7.75万
• 依托单位: KESSLER FOUNDATION, INC.
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-05-15 至 2011-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7640060
• 关键词: Accounting; Address; Adult; Adverse event; Affect; Amyotrophic Lateral Sclerosis; Area; Arts; Caregivers; Cause of Death; Clinical Research; Clinical Treatment; Clinical Trials; Clinical Trials Design; Clinical effectiveness; Cognitive; Communities; Computer software; Development; Disease; Disease Outcome; Effectiveness; Emotional; Ensure; Epilepsy; Exhibits; Family member; Fatigue; Focus Groups; Funding; Future; General Population; Generic Drugs; Genes; Genetic; Goals; Health; Health Personnel; Heart; Hereditary Disease; Huntington Disease; Individual; Intervention; Lead; Left; Life; Light; Measurement; Measures; Methodology; Methods; Mission; Motor; Multiple Sclerosis; National Institute of Neurological Disorders and Stroke; Neurodegenerative Disorders; Neurologic; Outcome; Outcome Measure; Pain; Parkinson Disease; Persons; Physical Function; Pilot Projects; Policies; Population; Preparation; Psychometrics; Quality of life; Research; Research Design; Research Personnel; Respondent; Risk; SF-36; Sampling; Social support; Solid; Spinal cord injury; Stroke; Structure; Study Section; Symptoms; Technology; Testing; Time; Transcript; Traumatic Brain Injury; United States National Institutes of Health; Validation; Work; base; clinical practice; computerized; effective therapy; end of life; functional restoration; health related quality of life; improved; information gathering; instrument; meetings; neglect; nervous system disorder; patient population; physical conditioning; public health relevance; response; satisfaction; theories; tool

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.

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上重要的症状和结果，包括疼痛，疲劳和生活质量”。 NIH路线图导致了许多与健康相关的生活质量（HRQOL）测量开发计划的大规模大规模计划，用于：1）一般人群（由NIH资助）； 2）成人癫痫，中风，肌萎缩性侧面硬化症，多发性硬化症和帕金森氏病（由Ninds资助）； 3）脊髓损伤（由NCMRR和Ninds资助）； 4）脑外伤（由NIDRR和VA RR＆D资助）。尽管采取了这些举措，但HRQOL的措施很少，亨廷顿氏病（HD）使用了最具破坏性和衰弱的疾病之一。高清 - 一种致命的，阴险的，进行性神经退行性疾病 - 其特征是运动，认知和精神病功能异常，这些功能逐渐出现并恶化，直到最终导致死亡。最近，HD中基因鉴定的发展导致了旨在恢复功能和治疗次要并发症的临床试验的推动，导致人们对找到这种致命疾病的治疗的希望新希望。当前，缺乏评估临床治疗有效性的HRQOL中高清特异性，严格的结果措施；需要对HRQOL进行有效的HD特定度量，以准确测量临床和研究结果。具体而言，这项研究将通过使用基于社区的伙伴关系来识别HRQOL域/主题的相关项目并开发反映这些域/主题的项目，从而复制上述项目的最先进的定性方法。将包括由HD（“消费者”），家庭成员和护理人员以及高清专业人员组成的个人或高清危险的人组成的焦点小组，以确定与HD中与生活质量有关的重要问题/主题。焦点小组的成绩单将由两名独立研究人员进行审查，以识别主要内容领域并制定HD中HRQOL域的初始列表；这些域将为项目开发提供初始结构。这项研究完成后，将寻求未来的资金来测试和验证这些项目，并将包括连贯，全面，最先进的方法，同时采用经典和当代的测试构建和验证方法，包括项目响应理论和计算机化自适应测试技术。该试点项目与未来的工作一起，将通过开发有意义的，有效和简洁的HRQOL量度来填补重要的空隙，以用于HD临床试验的结果测量。公共卫生相关性：尽管亨廷顿氏病（HD）中基因鉴定的发展导致了为这种致命状况寻找有效治疗方法的推动，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生活质量的有效性所需的敏感性（HRQOL）。这项研究的目的是在HD患者中制定对HRQOL的敏感且有意义的结果度量。这样的措施将与身体功能，情绪功能，参与和不良事件（例如亨廷顿氏病评级量表）的衡量标准一起使用，作为HD临床试验的核心结果指标。