INTRODUCTION: eHealth seems promising in addressing challenges in the provision of care for Huntington's disease (HD) across Europe. By harnessing information and communication technologies, eHealth can partially relocate care from specialized centers to the patients' home, thereby increasing the availability and accessibility of specialty care services beyond regional borders. Previous research on eHealth (development) in HD is however limited, especially when it comes to including eHealth services specifically designed together with HD gene expansion carriers (HDGECs) and their partners to fit their needs and expectations. METHODS: This article describes the qualitative human-centered design process and first evaluations of the Huntington Support App prototype: a web-app aimed to support the quality of life (QoL) of HDGECs and their partners in Europe. Prospective end-users, i.e., HDGECs, their partners, and healthcare providers (HCPs), from different countries were involved throughout the development process. Through interviews, we captured people's experiences with the disease, quality of life (QoL), and eHealth. We translated their stories into design directions that were further co-designed and subsequently evaluated with the user groups. RESULTS: The resulting prototype centralizes clear and reliable information on the disease, HD-related news and events, as well as direct contact possibilities with HCPs via an online walk-in hour or by scheduling an appointment. The app's prototype was positively received and rated as (very) appealing, pleasant, easy to use and helpful by both HDGECs and partners. DISCUSSION: By involving end-users in every step, we developed a healthcare app that meets relevant needs of individuals affected by HD and therefore may lead to high adoption and retention rates. As a result, the app provides low-threshold access to reliable information and specialized care for HD in Europe. A description of the Huntington Support App as well as implications for further development of the app's prototype are provided.

Centro Malattie Neurologiche Rare Foundation Rome Italy

Department of Neurology and Center of Clinical Neuroscience 1st Faculty of Medicine Charles University and General University Hospital Prague Prague Czechia

Department of Neurology Leiden University Medical Center Leiden Netherlands

Department of Neurology University Hospital Ulm Ulm Germany

Department of Public Health and Primary Care Leiden University Medical Center Leiden Netherlands

Faculty of Industrial Design Engineering Delft University of Technology Delft Netherlands

Huntington and Rare Diseases Unit Fondazione IRCCS Casa Sollievo della Sofferenza Research Hospital San Giovanni Rotondo Italy

Huntington Center Topaz Overduin Katwijk Netherlands

Isar Amper Klinikum Huntington Zentrum Süd Klinik Taufkirchen Munich Germany

National eHealth Living Lab Leiden University Medical Center Leiden Netherlands

St John of God Hospital Trinity College Dublin Dublin Ireland

See more in PubMed

Bates GP, Dorsey R, Gusella JF, Hayden MR, Kay C, Leavitt BR, et al. . Huntington disease. Nat Rev Dis Primers. (2015) 1:15005. doi: 10.1038/nrdp.2015.5 PubMed DOI

Bates GP, Tabrizi SJ, Jones L. Huntington’s Disease. 4th ed. New York, YU: Oxford University Press; (2014).

McColgan P, Tabrizi SJ. Huntington's disease: a clinical review. Eur J Neurol. (2018) 25:24–34. doi: 10.1111/ene.13413 PubMed DOI

Roos RA. Huntington's disease: a clinical review. Orphanet J Rare Dis. (2010) 5:40. doi: 10.1186/1750-1172-5-40, PMID: PubMed DOI PMC

Reilmann R, Leavitt BR, Ross CA. Diagnostic criteria for Huntington's disease based on natural history. Mov Disord. (2014) 29:1335–41. doi: 10.1002/mds.26011, PMID: PubMed DOI

Ross CA, Reilmann R, Cardoso F, McCusker EA, Testa CM, Stout JC, et al. . Movement Disorder Society task force viewpoint: Huntington's disease diagnostic categories. Mov Disord Clin Pract. (2019) 6:541–6. doi: 10.1002/mdc3.12808, PMID: PubMed DOI PMC

van Lonkhuizen PJC, Frank W, Heemskerk A, van Duijn E, de Bot ST, Mühlbäck A, et al. . Quality of life, health-related quality of life, and associated factors in Huntington’s disease: a systematic review. J Neurol. (2023) 270:2416–37. doi: 10.1007/s00415-022-11551-8 PubMed DOI PMC

Domaradzki J. The impact of Huntington disease on family carers: a literature overview. Psychiatr Pol. (2015) 49:931–44. doi: 10.12740/PP/34496 PubMed DOI

Ready RE, Mathews M, Leserman A, Paulsen JS. Patient and caregiver quality of life in Huntington's disease. Mov Disord. (2008) 23:721–6. doi: 10.1002/mds.21920, PMID: PubMed DOI PMC

Aubeeluck AV, Buchanan H, Stupple EJ. All the burden on all the carers': exploring quality of life with family caregivers of Huntington's disease patients. Qual Life Res. (2012) 21:1425–35. doi: 10.1007/s11136-011-0062-x, PMID: PubMed DOI

Dawson S, Kristjanson LJ, Toye CM, Flett P. Living with Huntington's disease: need for supportive care. Nurs Health Sci. (2004) 6:123–30. doi: 10.1111/j.1442-2018.2004.00183.x PubMed DOI

van Walsem MR, Howe EI, Iversen K, Frich JC, Andelic N. Unmet needs for healthcare and social support services in patients with Huntington's disease: a cross-sectional population-based study. Orphanet J Rare Dis. (2015) 10:124. doi: 10.1186/s13023-015-0324-8, PMID: PubMed DOI PMC

Edmondson MC, Goodman L. Contemporary health care for Huntington disease. Handb Clin Neurol. (2017) 144:167–78. doi: 10.1016/B978-0-12-801893-4.00014-6, PMID: PubMed DOI

Veenhuizen RB, Kootstra B, Vink W, Posthumus J, van Bekkum P, Zijlstra M, et al. . Coordinated multidisciplinary care for ambulatory Huntington's disease patients. Evaluation of 18 months of implementation. Orphanet J Rare Dis. (2011) 6:77. doi: 10.1186/1750-1172-6-77, PMID: PubMed DOI PMC

Pham Nguyen TP, Bravo L, Gonzalez-Alegre P, Willis AW. Geographic barriers drive disparities in specialty center access for older adults with Huntington's disease. J Huntingtons Dis. (2022) 11:81–9. doi: 10.3233/JHD-210489, PMID: PubMed DOI

Dorsey ER, Glidden AM, Holloway MR, Birbeck GL, Schwamm LH. Teleneurology and mobile technologies: the future of neurological care. Nat Rev Neurol. (2018) 14:285–97. doi: 10.1038/nrneurol.2018.31, PMID: PubMed DOI

Eysenbach G. What is e-health? J Med Internet Res. (2001) 3:E20. doi: 10.2196/jmir.3.2.e20, PMID: PubMed DOI PMC

van der Kleij R, Kasteleyn MJ, Meijer E, Bonten TN, Houwink EJF, Teichert M, et al. . SERIES: eHealth in primary care. Part 1: concepts, conditions and challenges. Eur J Gen Pract. (2019) 25:179–89. doi: 10.1080/13814788.2019.1658190 PubMed DOI PMC

de Man J, de Jager L, Kleiterp J, Engelhard D, Achterberg W. K10 E-health support for community residing HD patients: report of a pilot-project. J Neurol Neurosurg Psychiatry. (2016) 87:A82.3–A83. doi: 10.1136/jnnp-2016-314597.233 DOI

Bull MT, Darwin K, Venkataraman V, Wagner J, Beck CA, Dorsey ER, et al. . A pilot study of virtual visits in Huntington disease. J Huntingtons Dis. (2014) 3:189–95. doi: 10.3233/JHD-140102, PMID: PubMed DOI

Hawkins AK, Creighton S, Ho A, McManus B, Hayden MR. Providing predictive testing for Huntington disease via telehealth: results of a pilot study in British Columbia. Can Clin Genet. (2013) 84:60–4. doi: 10.1111/cge.12033, PMID: PubMed DOI

Hawkins AK, Creighton SM, Hayden MR. Developing a comprehensive, effective patient-friendly website to enhance decision making in predictive testing for Huntington disease. Genet Med. (2013) 15:466–72. doi: 10.1038/gim.2012.149, PMID: PubMed DOI

Frich JC, Rae D, Roxburgh R, Miedzybrodzka ZH, Edmondson M, Pope EB, et al. . Health care delivery practices in Huntington's disease specialty clinics: an international survey. J Huntingtons Dis. (2016) 5:207–13. doi: 10.3233/JHD-160192, PMID: PubMed DOI PMC

Mohanty D, Schmitt P, Dixon L, Holiday V, Hedera P. Patient and caregiver perspectives on telehealth use in a multidisciplinary Huntington's disease clinic: a single-institution experience. J Huntingtons Dis. (2022) 11:415–9. doi: 10.3233/JHD-220547, PMID: PubMed DOI

Pfalzer AC, Hale LM, Huitz E, Buchanan DA, Brown BK, Moroz S, et al. . Healthcare delivery and Huntington's disease during the time of COVID-19. J Huntingtons Dis. (2021) 10:313–22. doi: 10.3233/JHD-200460, PMID: PubMed DOI

Greenhalgh T, A'Court C, Shaw S. Understanding heart failure; explaining telehealth—a hermeneutic systematic review. BMC Cardiovasc Disord. (2017) 17:156. doi: 10.1186/s12872-017-0594-2 PubMed DOI PMC

Granja C, Janssen W, Johansen MA. Factors determining the success and failure of eHealth interventions: systematic review of the literature. J Med Internet Res. (2018) 20:e10235. doi: 10.2196/10235, PMID: PubMed DOI PMC

Nijland N, van Gemert-Pijnen J, Boer H, Steehouder MF, Seydel ER. Evaluation of internet-based technology for supporting self-care: problems encountered by patients and caregivers when using self-care applications. J Med Internet Res. (2008) 10:e13. doi: 10.2196/jmir.957, PMID: PubMed DOI PMC

Ruggiano N, Brown EL, Shaw S, Geldmacher D, Clarke P, Hristidis V, et al. . The potential of information technology to navigate caregiving systems: perspectives from dementia caregivers. J Gerontol Soc Work. (2018) 62:432–50. doi: 10.1080/01634372.2018.1546786 PubMed DOI

Tinschert P, Jakob R, Barata F, Kramer JN, Kowatsch T. The potential of Mobile apps for improving asthma self-management: a review of publicly available and well-adopted asthma apps. JMIR Mhealth Uhealth. (2017) 5:e113. doi: 10.2196/mhealth.7177 PubMed DOI PMC

van Gemert-Pijnen JE, Nijland N, van Limburg M, Ossebaard HC, Kelders SM, Eysenbach G, et al. . A holistic framework to improve the uptake and impact of eHealth technologies. J Med Internet Res. (2011) 13:e111. doi: 10.2196/jmir.1672, PMID: PubMed DOI PMC

Whitehead L, Seaton P. The effectiveness of self-management Mobile phone and tablet apps in long-term condition management: a systematic review. J Med Internet Res. (2016) 18:e97. doi: 10.2196/jmir.4883, PMID: PubMed DOI PMC

Wang G, Marradi C, Albayrak A, van der Cammen TJM. Co-designing with people with dementia: a scoping review of involving people with dementia in design research. Maturitas. (2019) 127:55–63. doi: 10.1016/j.maturitas.2019.06.003, PMID: PubMed DOI

Monje MHG, Grosjean S, Srp M, Antunes L, Bouca-Machado R, Cacho R, et al. . Co-designing digital Technologies for Improving Clinical Care in people with Parkinson's disease: what did we learn? Sensors. (2023) 23:4957. doi: 10.3390/s23104957, PMID: PubMed DOI PMC

Russell RD, Black LJ, Purdue J, Daly A, Begley A. A collaborative approach to designing an online nutrition education program for people with multiple sclerosis. Disabil Rehabil. (2024) 46:947–56. doi: 10.1080/09638288.2023.2186499 PubMed DOI

Melles M, Albayrak A, Goossens R. Innovating health care: key characteristics of human-centered design. Int J Qual Health Care. (2021) 33:37–44. doi: 10.1093/intqhc/mzaa127 PubMed DOI PMC

van Lonkhuizen PJC, Vegt NJH, Meijer E, van Duijn E, de Bot ST, Klempir J, et al. . Study protocol for the development of a European eHealth platform to improve quality of life in individuals with Huntington's disease and their partners (HD-eHelp study): a user-centered design approach. Front Neurol. (2021) 12:719460. doi: 10.3389/fneur.2021.719460, PMID: PubMed DOI PMC

Landwehrmeyer GB, Fitzer-Attas CJ, Giuliano JD, Goncalves N, Anderson KE, Cardoso F, et al. . Data analytics from enroll-HD, a global clinical research platform for Huntington's disease. Mov Disord Clin Pract. (2017) 4:212–24. doi: 10.1002/mdc3.12388, PMID: PubMed DOI PMC

Nielsen J, Landaue T.K. (1993). “A mathematical model of the finding of usability problems” in Proceedings of the INTERACT’93 and CHI’93 Conference on Human Factors in Computing Systems. Association for Computing Machinery, New York, NY.

Simonse L, Albayrak A, Starre S. Patient journey method for integrated service design. Des Health. (2019) 3:82–97. doi: 10.1080/24735132.2019.1582741 DOI

Van Lonkhuizen P.J.C., Heemskerk AW, Slutter L, Van Duijn E, De Bot ST, Chavannes NH, et al. . (2023). Shifting focus from ideality to reality: A qualitative study on how quality of life is defined by premanifest and manifest Huntington’s disease gene expansion carriers. Research Square [Preprint]. doi: 10.21203/rs.3.rs-3964487/v1 DOI

Saunders B, Sim J, Kingstone T, Baker S, Waterfield J, Bartlam B, et al. . Saturation in qualitative research: exploring its conceptualization and operationalization. Qual Quant. (2018) 52:1893–907. doi: 10.1007/s11135-017-0574-8, PMID: PubMed DOI PMC

Sanders L, Stappers PJ. From designing to co-designing to collective dreaming: three slices in time. Interactions. (2014) 21:24–33. doi: 10.1145/2670616 DOI

Huntington Study Group . Unified Huntington's disease rating scale: reliability and consistency. Mov Disord. (1996) 11:136–42. doi: 10.1002/mds.870110204 PubMed DOI

Visser F, Stappers PJ, van der Lugt R, Sanders EB-N. Contextmapping: experiences from practice. CoDesign. (2005) 1:119–49. doi: 10.1080/15710880500135987 DOI

Polanyi M. The Tacit Dimension. 1st ed. Garden City, NY: Doubleday; (1966).

Leary M, Cacchione PZ, Demiris G, Carthon JMB, Bauermeister JA. An integrative review of human-centered design and design thinking for the creation of health interventions. Nurs Forum. (2022) 57:1137–52. doi: 10.1111/nuf.12805, PMID: PubMed DOI

International Organization for Standardization (2019). Ergonomics of human-system interaction—Part 210: Human-centred design for interactive systems. ISO 9241-210:2019(en). Available at: https://www.iso.org/obp/ui/#iso:std:iso:9241:-210:ed-2:v1:en

Rowen D, Mukuria C, Bray N, Carlton J, Longworth L, Meads D, et al. . Assessing the comparative feasibility, acceptability and equivalence of videoconference interviews and face-to-face interviews using the time trade-off technique. Soc Sci Med. (2022) 309:115227. doi: 10.1016/j.socscimed.2022.115227 PubMed DOI

Estevez-Carrillo A, Dewilde S, Oppe M, Ramos-Goni JM. Exploring the comparability of face-to-face versus video conference-based composite time trade-off interviews: insights from EQ-5D-Y-3L valuation studies in Belgium and Spain. Patient. (2022) 15:521–35. doi: 10.1007/s40271-022-00573-z, PMID: PubMed DOI PMC

Lipman SA. Time for tele-TTO? Lessons learned from digital interviewer-assisted time trade-off data collection. Patient. (2021) 14:459–69. doi: 10.1007/s40271-020-00490-z, PMID: PubMed DOI PMC

Willemsen RF, Aardoom JJ, Chavannes NH, Versluis A. Online synchronous focus group interviews: practical considerations. Qual Res. (2022) 23:1–11. doi: 10.1177/14687941221110161 DOI

Wind TR, Rijkeboer M, Andersson G, Riper H. The COVID-19 pandemic: the 'black swan' for mental health care and a turning point for e-health. Internet Interv. (2020) 20:100317. doi: 10.1016/j.invent.2020.100317, PMID: PubMed DOI PMC

Ross J, Stevenson F, Lau R, Murray E. Factors that influence the implementation of e-health: a systematic review of systematic reviews (an update). Implement Sci. (2016) 11:146. doi: 10.1186/s13012-016-0510-7, PMID: PubMed DOI PMC

Shah SG, Robinson I. User involvement in healthcare technology development and assessment: structured literature review. Int J Health Care Qual Assur Inc Leadersh Health Serv. (2006) 19:500–15. doi: 10.1108/09526860610687619, PMID: PubMed DOI

Scott Kruse C, Karem P, Shifflett K, Vegi L, Ravi K, Brooks M. Evaluating barriers to adopting telemedicine worldwide: a systematic review. J Telemed Telecare. (2018) 24:4–12. doi: 10.1177/1357633X16674087, PMID: PubMed DOI PMC

Battersby M, Lawn S, Pols R. Conceptualisation of self-management In: Kralik D, Paterson B, Coates V, editors. Translating Chronic Illness Research Into Practice. Hoboken, NJ: Wiley-Blackwell; (2010). 115–201.