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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 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.

Background Beta-thalassemia (BT) is an inherited blood disorder characterized by reduced levels of functional hemoglobin resulting in phenotypes ranging from clinically asymptomatic to severely anemic. Patients with BT may require lifelong regular blood transfusions supported by appropriate iron chelation therapy (ICT). This study aimed to determine how the UK general population values BT health states associated with differing transfusion burden and ICT. Methods Composite time trade-off (cTTO) methodology was employed to elicit health state utilities in BT. Relevant BT literature related to symptom and quality-of-life impact, including physical, functional, and emotional well-being, and safety profiles of BT treatments were considered when drafting health state descriptions. Eleven health state descriptions were developed and validated by hematologists and patient advocates for clinical accuracy and completeness. 200 individuals from the UK general population participated in the cTTO interviews. Results The mean age of participants was 41.50 years (SD 16.01, range 18–81); 88 (46.8%) were female. Utility values ranged from 0.78 (SD 0.34) for non-transfusion dependent BT with oral ICT to 0.37 (SD 0.50) for high transfusion burden with subcutaneous ICT in transfusion-dependent BT. Conclusions This study provides health utilities for a range of BT health states from the UK general population perspective. Importantly, lower transfusion burden and lower burden of anemia were associated with higher utilities. To a lesser extent, differential modes of ICT were found to impact utility valuations in patients with BT. The utilities obtained in this study can be employed as inputs in cost-effectiveness analyses of BT therapies.

Background Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease associated with major complications such as thrombotic events and impaired renal function. Prior to the introduction of C5 inhibitors in 2007, PNH had been fatal in about 35% of patients within 5 years of diagnosis; yet, this fatality rate continues in countries without access to these medications. Worldwide access to the C5 inhibitor eculizumab is hindered by the unavailability of treatment, and in places where treatment is approved, cost of treatment, reimbursement issues, infrastructure, or patient restrictions may further impede access (Risitano et al, Am J Hematol. 2018; Risitano et al, Front Immunol. 2019). PNH treatment places a significant economic burden on healthcare systems. In a number of countries, this has resulted in negative health technology appraisals (HTAs), indicative that optimal care and resource utilization are not being achieved (Coyle et al, Med Decis Making. 2014). New therapies with more convenient modes of administration may have the potential to improve how PNH is clinically treated and may have a positive effect on the economic burden and access to C5 inhibitors globally. Robust data on the real-life burden and cost of PNH are therefore needed to assess the impact of current therapies and establish a baseline for new therapeutic approaches. The data derived from this study will be used to support HTA processes and inform the value of new therapies for PNH. Objectives The COMMODORE Burden of Illness (BOI) study will quantify the direct medical costs (eg, treatment and hospitalization), direct nonmedical costs (eg, travel), and indirect costs (eg, impact on work productivity and family burden) associated with PNH for patients and care providers and determine the impact of PNH on health-related quality of life (HRQoL). Study Design and Methods This is an international, prevalence-based, bottom-up, burden of illness study containing both retrospective and prospective data collection. The study will be overseen by an expert reference group consisting of multidisciplinary stakeholders. The study protocol and materials will be submitted for ethical approval to the University of Chester in the United Kingdom. Physicians will provide information on sociodemographic, clinical, and medical resource utilization using an electronic case record form (eCRF). Through patient and public involvement and engagement, patients, after giving informed consent, will provide further information on the economic and HRQoL impact of PNH by completing patient-reported outcome surveys. Patients from France, Germany, United Kingdom, and China will be included. The study aims to recruit 94 physicians reporting 350 patient eCRFs with an expected return of 140 patient surveys and longitudinal data collection after 6 to 12 months for each patient. Mean per-patient costs, including direct medical and nonmedical costs, and indirect resource utilization will be calculated by multiplying the individual resource utilization with country-specific unit costs. National economic burden will be extrapolated by applying national prevalence estimates of PNH. Additionally, the impact of PNH on HRQoL in patients will be assessed within this study. Summary The COMMODORE BOI study aims to characterize current PNH treatment via quantification of the humanistic and socioeconomic burden at the patient, healthcare system, and societal level to enhance the evidence base for treatment and decision-making in this community. Final results are expected be available by the second quarter of 2022. Disclosures Hampton: F. Hoffmann-La Roche Ltd: Current Employment, Current equity holder in publicly-traded company, Other: All authors received support for third party writing assistance, furnished by Scott Battle, PhD, provided by F. Hoffmann-La Roche, Basel, Switzerland.. Katz:F. Hoffmann-La Roche Ltd: Current Employment, Other: All authors received support for third party writing assistance, furnished by Scott Battle, PhD, provided by F. Hoffmann-La Roche, Basel, Switzerland.. Shang:F. Hoffmann-La Roche Ltd: Current Employment, Current equity holder in publicly-traded company, Other: All authors received support for third party writing assistance, furnished by Scott Battle, PhD, provided by F. Hoffmann-La Roche, Basel, Switzerland.. Dhillon:F. Hoffmann-La Roche Ltd: Other: All authors received editorial support for this abstract, furnished by Scott Battle, funded by F. Hoffmann-La Roche Ltd, Basel, Switzerland. ; HCD Economics: Current Employment. Hubberstey:HCD Economics: Current Employment; Huntingdon's Disease Youth Organization: Membership on an entity's Board of Directors or advisory committees; F. Hoffmann-La Roche Ltd: Other: All authors received editorial support for this abstract, furnished by Scott Battle, funded by F. Hoffmann-La Roche Ltd, Basel, Switzerland. .