OBJECTIVES

Huntington’s Disease (HD) is a rare, inherited and highly complex neuro-degenerative disorder, affecting cognition, movement, and mood. There is a lack of extensive up-to-date real-world evidence documenting humanistic burden of HD on a large scale and by disease stage from a multinational perspective. This research descriptively explores the differences in EQ-5D-5L utility scores of HD patients by disease stage.

METHODS

The Huntington’s Disease Burden of Ilness Study (HDBOI) is a retrospective, cross-sectional dataset that captures sociodemographic and clinical information, medical resource use and health related quality of life (HRQoL) of a cohort of HD patients. Countries included in the study are Germany, France, Italy, Spain, UK and US. EQ-5D-5L utility scores were computed using the UK value set.

RESULTS

The analytic sample with information on EQ-5D is comprised of 336 HD patients, of which 38% were early stage (ES), 35% mid stage (MS) and 26% advanced stage (AS). Around 8% (n=27) of responses were reported by caregivers who acted as proxy.

EQ-5D utility scores decreased with disease severity: mean EQ-5D score was 0.72 (SD ±0.22) for ES patients; 0.62 (SD ±0.18) for MS patients and 0.37 (SD ±0.30) for AS patients. The anxiety and depression dimension was the main driver of poor EQ-5D scores in ES and MS patients whilst mobility, followed by self-care and usual activities were the main drivers in the AS patient group. Proxy-responders reported on average worse EQ5D scores versus patient self-reported scores; the difference is largest in the AS group: proxy-respondent 0.13 (SD ±0.31) vs. patient self-reported 0.42 (SD ±0.27).

CONCLUSIONS

Results from the HDBOI study show a significant humanistic burden on HD patients, and HRQoL deterioration as the disease progresses. Discrepancies between patient and proxy reported HRQoL might be related to the well-documented unawareness and underreporting of symptoms displayed by HD patients.