The NIH Common Fund recognizes a """"""""pressing need to better quantify clinically important symptoms and outcomes, including pain, fatigue, and quality of life."""""""" The NIH Common Fund has led to an unprecedented number of large-scale initiatives to develop patient reported outcomes (PROs) for health-related quality of life (HRQOL) 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). More recently, the NINDS has extended these measurement development efforts to include Huntington disease (HD)-a fatal, insidious, progressive neurodegenerative disease characterized by abnormalities in motor, cognitive, and psychiatric functions. HD is one of the more devastating neurological diseases, as symptoms gradually appear and worsen until eventually causing death. The effort to develop an HD-specific measure, called the """"""""HD- QOL,"""""""" replicated state-of-the art qualitative methodology (utilized in the aforementioned PROs projects) 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, family members and caregivers, and HD professionals were conducted to identify issues of HRQOL that were relevant for individuals with HD. Findings indicated the diverse issues (emotional, physical, social, cognitive and end of life) that confront individuals with HD. Specifically, findings demonstrated that while many of the constructs measured by the new PROs are relevant and important in this population, there is also a need for assessment of HD-specific HRQOL issues that are not already captured by these existing measurement systems (i.e., end of life issues, chorea, and speech and swallowing difficulties). As a result, items reflecting these HD-specific constructs were developed to complement the preexisting PRO initiatives. The proposed project will validate the HD-QOL and other relevant, newly developed PROs in a diverse sample of individuals with HD. Specifically, a 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 - will be used to develop a computerized adaptive test that permits brief and precise measurement of clinically relevant symptoms and functional limitations. In addition, this study will examine these measures'sensitivity and responsiveness to change over time. This new HD-QOL measurement system will allow clinicians to monitor patients by detecting small but important changes in HD HRQOL outcomes, allow researchers to conduct more efficient HD clinical trials (highly sensitive measures require fewer study participants), and allow patients to more effectively communicate their HRQOL concerns to their providers.

Public Health Relevance

Although the development of gene identification in Huntington disease (HD) has led to a push to find effective treatments for this fatal condition, current outcome 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 determine the sensitivity of an HD-specific measure of HRQOL (the HD-QOL) and of other new HRQOL measures developed for use in the general population. Ultimately, the findings from this study will provide clinically relevant information to providers, allow for more sensitive assessment of intervention-related change, and maximize the efficiency of clinical trials.

National Institute of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Research Project (R01)
Project #
Application #
Study Section
Behavioral Medicine, Interventions and Outcomes Study Section (BMIO)
Program Officer
Sutherland, Margaret L
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
University of Michigan Ann Arbor
Physical Medicine & Rehab
Schools of Medicine
Ann Arbor
United States
Zip Code
Carlozzi, N E; Schilling, S; Kratz, A L et al. (2018) Understanding patient-reported outcome measures in Huntington disease: at what point is cognitive impairment related to poor measurement reliability? Qual Life Res :
Hahn, Elizabeth A; Downing, Nancy R; Stout, Julie C et al. (2018) Understanding the need for assistance with survey completion in people with Huntington disease. Qual Life Res 27:801-810
Downing, Nancy R; Goodnight, Siera; Chae, Sena et al. (2018) Factors Associated With End-of-Life Planning in Huntington Disease. Am J Hosp Palliat Care 35:440-447
Carlozzi, Noelle E; Hahn, Elizabeth A; Goodnight, Siera M et al. (2018) Patient-reported outcome measures in Huntington disease: Quality of life in neurological disorders (Neuro-QoL) social functioning measures. Psychol Assess 30:450-458
Wesson, Melissa; Boileau, Nicholas R; Perlmutter, Joel S et al. (2018) Suicidal Ideation Assessment in Individuals with Premanifest and Manifest Huntington Disease. J Huntingtons Dis 7:239-249
Carlozzi, Noelle E; Boileau, Nicholas R; Perlmutter, Joel S et al. (2018) Agreement between clinician-rated versus patient-reported outcomes in Huntington disease. J Neurol 265:1443-1453
Fritz, Nora E; Boileau, Nicholas R; Stout, Julie C et al. (2018) Relationships Among Apathy, Health-Related Quality of Life, and Function in Huntington's Disease. J Neuropsychiatry Clin Neurosci 30:194-201
Lai, Jin-Shei; Goodnight, Siera; Downing, Nancy R et al. (2018) Evaluating cognition in individuals with Huntington disease: Neuro-QoL cognitive functioning measures. Qual Life Res 27:811-822
Carlozzi, Noelle E; Hahn, E A; Frank, S A et al. (2018) A new measure for end of life planning, preparation, and preferences in Huntington disease: HDQLIFE end of life planning. J Neurol 265:98-107
Boileau, Nicholas R; Stout, Julie C; Paulsen, Janes S et al. (2017) Reliability and Validity of the HD-PRO-TriadTM, a Health-Related Quality of Life Measure Designed to Assess the Symptom Triad of Huntington's Disease. J Huntingtons Dis 6:201-215

Showing the most recent 10 out of 20 publications