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.
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.
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