OBJECTIVES: Huntington's disease (HD) is a rare, progressive, genetic neurodegenerative condition characterized by cognitive, motor, and psychiatric dysfunction that affects about 43,000 people in the US and 40-100 per million people in Europe. The objective was to identify and summarize the humanistic burden evidence in HD.

METHODS: Embase, MEDLINE, and Cochrane Registry databases were searched from database inception to May 2022 to identify English language articles assessing the humanistic burden associated with HD.

RESULTS: The SLR identified 24 studies (sample size 15 to 536) published across 39 publications (EU4:7, US:10, UK:4, US/UK:2) assessing the humanistic burden of HD patients and caregivers. HD patients (early and late stage) reported poor quality of life (Qol) on WHO-DAS and EQ-5D scales compared to prodromal, at-risk, and control groups. Chorea negatively affected HRQol of HD patients and the patients with chorea required significantly more frequent assistance than those without chorea. Role emotional and role physical were the most altered dimensions on SF-36 with mean scores ranging from 27.08 to 35.00 and 30.52 to 31.62, respectively. Motor (37.12 to 56.96) and psychological (37.02 to 58.06) were the most affected dimensions on the HQol-I scale, whereas self-care and usual activities were most altered on the EQ-5D scale. Bodily pain was the least altered dimension both on SF-36 and EQ-5D scales, while the social dimension was the least altered on the HQol-I scale. Caregiver burden increased with the increase in severity of disease across Europe and US-based studies. HD patients’ functional scores and cognitive scores were found to be significant drivers of the caregivers' QoL.

CONCLUSIONS: Substantially higher burden of HD has been observed on society, patients, and caregivers across Europe and US. Motor and psychological are the most affected domains on various Qol scales. Better treatment options are needed to improve motor function and thereby HRQoL of HD patients.