Search

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 The course of Huntington’s disease (HD) is believed to be modulated by lifestyle and genetic factors. However, we do not understand how the interplay of these affects disease progression. An efficient method of measuring lifestyle factors involves the use of digital monitoring devices, but their long-term use in clinical HD populations has not yet been explored. Aim Investigate the use of digital technologies in a longitudinal observational study to inform our understanding of the contribution of multi-domain lifestyle and genetic factors in the progression of HD. Methods We plan to recruit 300-450 people with early to mid-stage HD to a 12-month observational study measuring aspects of physical activity, nutrition and sleep. Participants with existing genome wide association study (GWAS) data will be preferentially recruited. Assessment of dietary, sleep and physical activity habits will be performed at baseline and 12-month follow-up Clinical measures will be obtained from the corresponding annual Enroll-HD assessment (within 8 weeks of the DOMINO-HD assessment). Each participant will wear a Fitbit for the duration of the study. Lifestyle, genetic and clinical data will be linked and propensity score weighting methodology will be applied to examine the causal effect of the multi-domain lifestyle and genetic measures on HD progression. Results The start of recruitment was delayed by 10 months due to Covid-19. As of 1st July 2021, we have recruited 36 participants across 5 clinical sites, with recruitment planned to continue until March 2022. Conclusion Successful collection of longitudinal lifestyle data, combined with functional clinical measures and genetic factors will allow, for the first time, the investigation of causal relationships between environmental and genetic modifiers with HD progression. We can then use the information generated to design lifestyle interventions aimed at improving quality of life and prognosis in HD.

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 Using wearable activity trackers (WATs) to understand lifestyle behaviours in people with Huntington’s disease (HD) is reliant on user acceptance and long-term adoption. Aims To explore HD community members’ views on using WATs to monitor lifestyle behaviour. Methods Individuals with HD and family members/carers (FM-C) were invited to complete a user acceptance questionnaire (available in English, German, Polish and Spanish) and take part in focus groups to explore their opinion towards WATs. Recruitment took place at the 2019 Annual European HD Association meeting and 3 regional UK meetings. The questionnaire consisted of 35 items across 8 domains, plus demographics. Average questionnaire responses were recorded as positive (score>2.5), negative (score Focus group discussions (conducted in English) were driven by a topic guide, vignette-scenario and item ranking exercise. Discussions were audio recorded and thematically analysed. Results 105 completed questionnaires were analysed (47 HD; 58 FM-C). All sections of the questionnaire produced median scores greater than 2.5, representing a tendency for positive opinions towards WATs (being advantageous, easy and enjoyable to use, compatible with lifestyle, able to understand the information from a WAT and having a willingness to wear). HD participants reported a more positive attitude to WATs than FM-C (p=0.017). 15 participants took part in three focus groups. Device compatibility and accuracy, data security, impact on relationships and ability to self-manage and monitor lifestyle behaviours emerged as important considerations in device use/preference. Conclusion Whilst WATs were broadly recognised as acceptable for both monitoring and management, aspects of device design/functionality must be considered to promote acceptance in this clinical cohort.