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The prevalence of Huntington disease (HD) has increased over time; however, there is a lack of up-to-date evidence documenting the economic burden of HD by disease stage. This study provides an estimate of the annual direct medical, nonmedical, and indirect costs associated with HD from participants in the Huntington's Disease Burden of Illness (HDBOI) study in five European countries and the USA.The HDBOI is a retrospective, cross-sectional study. Data collection was conducted between September 2020 and May 2021. Participants were recruited by their HD-treating physicians and categorized as early stage (ES), mid stage (MS), or advanced stage (AS) HD. Data were collected via three questionnaires: a case report form, completed by physicians who collected health care resource use associated with HD to compute direct medical cost, and optional patient and caregiver questionnaires, which included information used to compute nondirect medical and indirect costs. Country-specific unit cost sources were used.HDBOI cost estimates were €12,663 (n = 2094) for direct medical costs, €2984 (n = 359) for nondirect medical costs, and €47,576 (n = 436) for indirect costs. Costs are higher in patients who are at later stages of disease; for example, direct medical costs estimates were €9220 (n = 846), €11,885 (n = 701), and €18,985 (n = 547) for ES, MS, and AS, respectively. Similar trends were observed for nondirect and indirect costs. Costs show large variations between patients and countries.Cost estimates from the HDBOI study show that people with HD and their caregivers bear a large economic burden that increases as disease progresses.

Background and ObjectivesHuntington disease (HD) is a rare, inherited, and highly complex neurodegenerative disorder with no currently approved disease-modifying treatments. We investigated the effect of HD on health-related quality of life and other patient-reported outcomes in the Huntington's Disease Burden of Illness (HDBOI) study.MethodsThe 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 5-level EQ-5D version (EQ-5D-5L), Short-Form-(SF)-36 v2 (and SF-6-Dimension [SF-6D] utility), Huntington Quality of Life Instrument (H-QoL-I), and the Work Productivity and Activity Impairment Specific Health Problem. All outcomes were summarized using descriptive statistics, and differences between disease stages were assessed by Kruskal-Wallis tests.ResultsA 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%). The mean EQ-5D-5L (n = 336) utility score 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. The 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 also increased with more advanced disease. 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.DiscussionThe HDBOI study provides new insights into the characteristics and humanistic burden of PwHD and offers a meaningful contribution to this underserved research area.

Background The development of effective therapies for Huntington’s disease (HD) requires an active, informed, and lasting commitment from HD families to research. Specifically, those traditionally less involved in studies should be heard and engaged in this process: persons at risk for HD (HDRisk) and persons with premanifest HD (PreHD). Aim To determine which factors affect the willingness of persons with HDrisk and PreHD to participate in research and check for differences related to HD status. Methods The European Huntington Association (EHA) created an online survey to assess the perceptions and experiences about research participation among persons with HDRisk and PreHD. The two groups were compared on their answers to questions about research experience and knowledge, sources of information about research, the importance of reasons for getting involved and not getting involved in studies, and factors preventing and facilitating study participation. Results/Outcome The survey was filled by 263 persons with HDRisk and 262 persons with PreHD. While the overall motivation of both groups to engage in research was high, respondents with PreHD reported significantly more research experience and better research knowledge than respondents with HDRisk. Respondents with HDRisk identified more barriers to research participation and the need for more support to engage in studies compared to respondents with PreHD. Conclusions Motivation to take part in studies is high, despite limited research experience and literacy. This motivation is strongly influenced by HD status. Our findings highlight the relevance of planning tailored interventions to better support an informed participation of specific HD groups in research.

Background In Germany at least 8000 people suffer from clinically manifest HD, ultimately resulting in patients dependent on care. There are no defined pathways for multidisciplinary HD care in Germany. While slowing down the progression of HD may be available in the future, optimized care is needed now. Aims Jointly defined activities aim to provide a comprehensive multidisciplinary treatment concept covering all HD patients’ stations. Therefore, different stakeholders collaborate: patients, families, patient organization, various medical and therapeutic specialties as well as researchers. Methods In 2020 interdisciplinary advisory boards were initiated by Deutsche Huntington-Hilfe and Roche Pharma AG to identify the most urgent topics needing attention in HD. The following areas were identified and working groups with additional people in specific roles implemented: 1. Disease Awareness & Stigmatization, 2. Networking, 3. Multidisciplinary therapy, 4. Trainings, 5. Capacity for Intrathecal Injections, 6. Publication of a statement paper and 7. Development of a HD educational book for professionals. It is special and unique that all working group members are co-creating voluntarily because they all have the common purpose to improve HD families’ conditions. Outcome First results were the drafting of the ‘statement paper’, in which further recommendations for the multidisciplinary care approach in HD are defined, various disease awareness activities and publication of HD educational book for professionals. Conclusions The collaborative working groups completed first projects and further promising steps are on the way to improve the situation of HD families in Germany. Acknowledgment We thank Roche Pharma AG for their continued support of the described activities.

Background Huntington’s Disease (HD) is a rare, inherited, and complex neuro-degenerative disorder, affecting cognition, movement, and mood. There is a lack of up-to-date real-world evidence documenting the overall burden of HD by disease stage and from a multinational perspective. This study provides an overview of demographic characteristics and HD-related health resource use (HRU) of European participants of the HDBOI study. Methods The HDBOI is a retrospective, cross-sectional dataset that captures sociodemographic, clinical variables and HRU of a cohort of HD patients which is reported by the treating physician. Patients and caregivers reported information on health-related quality of life, non-medical and indirect costs associated with HD by means of two optional questionnaires. European countries included in the study were Germany, Spain, Italy, France and UK. Statistical significance of differences by disease stage were assessed by ANOVA tests. Results The HDBOI European sample was comprised of 1,602 HD patients, of which 40% were early stage (ES), 34% mid stage (MS) and 26% advanced stage (AS). Approximately 59% of the patients were male and the mean age was 47.5 years (SD± 13.7). A total of 445 patients and 465 caregivers completed their optional questionnaires. Regarding HRU, the average number of annual visits to the treating physician increased with disease severity (p Conclusion The HDBOI study provides novel data to quantify HD health resource use by disease stage, increasing the evidence base for the HD community.

Background The prevalence of Huntington’s Disease (HD) has increased over time, augmenting the associated economic and humanistic burden. The HDBOI study aims to provide an up-to-date assessment of the burden of HD from a multinational perspective. Methods The HDBOI is a retrospective, cross-sectional dataset that captures demographic, clinical, and health resource utilization (HRU) of a cohort of HD patients, reported by treating physicians in multiple centres across the USA, Germany, Spain, Italy, France and the UK. Patients and caregivers reported information on health-related quality of life (HRQoL), non-medical and indirect costs associated with HD through optional questionnaires. The study has been governed by an Expert Review Group (ERG) that provided recommendations on the study design. Data was collected between September 2020 and May 2021. Patients and caregivers reported their HRQoL at the time of questionnaire completion, whereas physicians reported patient’s HRU for the 12-month period between March 2019 and March 2020, to avoid months with limited access to healthcare due to COVID-19. Other strategies were taken to mitigate the effect of COVID-19 on the fieldwork process: online questionnaires, extending the time in fieldwork, questions monitoring the effect of the pandemic on patients HRQoL and HRU. Results The HDBOI sample has 2,094 HD patients, of which 40% were early stage, 34% mid stage and 26% advanced stage, as assessed by the treating physician. Patient representation across countries was similar. For a subsample (N=718) the Shoulson and Fahn stages were determined by the treating physician: stage I (14.6%), II (24.4%), III (31.6%), IV (28.1%) and V (1.1%). The last figure was expected by the ERG, as advanced stage patients usually live in care homes and do not attend regular consultations. Conclusion The HDBOI study is a representative sample of the HD population across disease stages and studied countries, as confirmed by the ERG.

There has been great progress in Huntington’s disease (HD) research. Yet, effective treatments to halt disease before the onset of disabling symptoms are still unavailable. Scientific breakthroughs require an active and lasting commitment from families. However, they are traditionally less involved and heard in studies. Accordingly, the European Huntington Association (EHA) surveyed individuals at risk (HDRisk) and with premanifest HD (PreHD) to determine which factors affect their willingness to participate in research. Questions assessed research experience and knowledge, information sources, reasons for involvement and noninvolvement, and factors preventing and facilitating participation. The survey included 525 individuals, of which 68.8% never participated in studies and 38.6% reported limited research knowledge. Furthermore, 52% trusted patient organizations to get research information. Reasons for involvement were altruistic and more important than reasons for noninvolvement, which were related to negative emotions. Obstacles included time/financial constraints and invasive procedures, while professional support was seen as a facilitator. PreHD individuals reported less obstacles to research participation than HDRisk individuals. Overall, a high motivation to participate in research was noted, despite limited experience and literacy. This motivation is influenced by subjective and objective factors and, importantly, by HD status. Patient organizations have a key role in fostering motivation through education and support.