Humanistic Burden of Huntington Disease

Abstract

[346/ 350 words]Background and Objectives:Huntington’s Disease (HD) is a rare, inherited and highly complex neuro-degenerative disorder with no currently approved disease modifying treatments. We investigated the impact of HD on health-related quality of life (HRQoL) and other patient-reported outcomes in the Huntington’s Disease Burden of Illness (HDBOI) study.Methods:The HDBOI study is a retrospective, cross-sectional study conducted between September 2020 and May 2021 in France, Germany, Italy, Spain, the United Kingdom and the United States. People with symptomatic onset HD (PwHD) were recruited by their HD-treating physicians and categorized as early (ES), mid (MS) or advanced stage (AS) HD. Physicians provided sociodemographic and clinical information from the participant’s medical records in electronic case report forms (eCRF); participants or their proxies completed online Patient Public Involvement Engagement questionnaires (PPIE-P). Patient-reported outcomes included the EQ-5D-5L, SF-36 v2 (and SF-6D utility), Huntington Quality of Life Instrument (H-QoL-I), and the Work Productivity and Activity Impairment Specific Health Problem (WPAI-SHP). All outcomes were summarized using descriptive statistics, differences between disease stages were assessed by Kruskal-Wallis tests.Results:A total of 2,094 PwHD were enrolled with completed eCRFs (100%) and PPIE-P forms (n=482, 23%). Participants mean age was 47.3 years, they were generally evenly distributed across countries, with the majority being ES (40%) followed by MS (33%) and LS (26%). Mean EQ-5D-5L (n=336) utility scores was 0.59 (SD, 0.27), with the highest mean utility scores [SD] in ES (0.72 [0.22]) followed by MS (0.62 [0.18]) and AS (0.37 [0.30]), p<0.001. Mean SF-6D score (n=482) was 0.57 (SD, 0.10), with mean values decreasing with advanced disease (ES, 0.61; MS, 0.56; AS, 0.50, p<0.001). H-QoL-I mean scores (n=482) also worsened with more advanced disease, from 0.58 for ES to 0.49 for MS and 0.37 for AS, p<0.001. Impairment in daily activities and in work productivity. Overall proxy-respondents reported on average worse outcomes than PwHD (self-reported) across all outcomes and disease stages suggesting a possible unawareness of deficits by PwHD.Conclusion:The HDBOI study provides new insights into the characteristics and humanistic burden of PwHD, and offers a meaningful contribution to this underserved research area.

Health state utility estimates for value assessments of novel treatments in Huntington’s disease: a systematic literature review

“…Carlozzi et al [ 16 ] was identified as the primary report due to the richness of reported utility data, and the other 3 articles [ 13 – 15 ] were examined for any additional relevant information. In addition, two conference abstracts identified were earlier presentations of data published in subsequent articles by the same authors (Claassen et al [ 17 ], Rodriguez Santana et al [ 18 ]). Therefore, 11 distinct studies from the 16 identified publications were included in our analysis.…”

“…The utility measure used most frequently was the EQ-5D index (9 of 11 studies, Table 1 ). Two studies used the 3-level version of the instrument [ 19 , 20 ], 2 studies used the 5-level version [ 18 , 21 ], 1 study mapped the EQ-5D from SF-36 data [ 22 ], and the remaining 4 studies did not report the EQ-5D version. Two studies used the SF-6D to estimate utility by disease stage in patients with HD [ 18 , 23 ], one of which also reported EQ-5D utility values [ 18 ].…”

“…Two studies used the 3-level version of the instrument [ 19 , 20 ], 2 studies used the 5-level version [ 18 , 21 ], 1 study mapped the EQ-5D from SF-36 data [ 22 ], and the remaining 4 studies did not report the EQ-5D version. Two studies used the SF-6D to estimate utility by disease stage in patients with HD [ 18 , 23 ], one of which also reported EQ-5D utility values [ 18 ]. One study did not report EQ-5D or SF-6D but instead estimated utility values associated with 4 levels of chorea severity described in vignettes using time trade-off methods in a sample of the general population [ 17 ].…”

“…The study populations appear to be generally representative of the overall HD population, with a similar number of men and women [ 1 ]. However, we identified 3 cross-sectional surveys with more unbalanced samples (Exuzides et al [ 21 ] with 68.3% female; Shaw et al [ 22 ] with 28% female; Rodriguez Santana et al [ 18 ] with 35% female). The average age of the participants was between 40 and 58 years, which appears to be consistent with other studies in HD that describe age at onset (mean = 30–50 years; range = 2–85) and disease duration (mean = 17–20 years) [ 24 ].…”

Economic Burden of Huntington’s Disease in China: Results from a National-Wide Cross-Sectional Study

“…The economic consequences of HD on patients and healthcare systems are substantial and multifaceted [5][6][7][8]. These impacts extend beyond the healthcare sector, affecting patients' quality of life as well as the broader economy through productivity loss attributable to the disease [5][6][7][8]. Therefore, a comprehensive understanding of the economic burden of HD is vital for informed healthcare planning and policy-making.…”