Background Limited information is available on patients´ experience living with Huntington’s disease (HD) at earlier stages. The aim of this study was to assess the perception of quality of life in patients with early-stage HD using a battery of patient-reported measurements.

Methods A non-interventional, cross-sectional study was conducted in 17 hospitals in Spain. Patients aged ≥18 years, genetically confirmed HD with a Diagnostic Confidence Level score of 4 and an Independence Scale (IS) score ≥ 70) were included. The Huntington’s Disease Health-related Quality of Life (HDQLIFE), Satisfaction with Life Scale (SWLS), Stigma Scale for Chronic Illness (SSCI-8), Beck Hopelessness Scale (BHS), and Beck Depression Inventory-Fast Screen (BDI-FS) were administered. Correlations between outcomes were examined.

Results 102 patients were included. Age 53.1+-12 years; 56% males. Mean UHDRS motor score was 25.6 (15.0) and mean independence scale score 87.2 (11.7). Thirty-four percent (n=32) of patients had moderate-to-severe hopelessness, 36.3% (n=37) had depressive symptoms and 56% (n=57) reported stigma. Mean (SD) Death and Dying, End-of-life Planning, and Meaning and Purpose HDQLIFE T-scores were 45.9 (9.6), 37.9 (8.8), and 44.7 (9.0), respectively. BHS and BDI-FS scores showed a significant positive correlation with the impact that concerns and preoccupation with death and dying had on QoL (Death and Dying HDQLIFE score): rho 0.439 and 0.470, respectively; p<0.0001.

Conclusion Stigma, hopelessness and depressive symptoms were frequent findings in early-stage HD patients that negatively impacted their QoL. Understanding patients’ perspective in the early stages of the disease may facilitate the implementation of specific interventions to support their QoL.