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.

Pearl J C Van Lonkhuizen,Susanne T De Bot,Niels H Chavannes,Anne-Wil Heemskerk,Jennifer Hoblyn,Erik Van Duijn,Eline Meijer,Peter Foley,Ferdinando Squitieri,Niko J H Vegt,G Bernhard Landwehrmeyer,Jiří Klempíř,Wiebke Frank,Alzbeta Mühlbäck

doi:10.3389/fneur.2021.719460

Abstract

Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disease that affects the quality of life (QoL) of HD gene expansion carriers (HDGECs) and their partners. Although HD expertise centers have been emerging across Europe, there are still some important barriers to care provision for those affected by this rare disease, including transportation costs, geographic distance of centers, and availability/accessibility of these services in general. eHealth seems promising in overcoming these barriers, yet research on eHealth in HD is limited and fails to use telehealth services specifically designed to fit the perspectives and expectations of HDGECs and their families. In the European HD-eHelp study, we aim to capture the needs and wishes of HDGECs, partners of HDGECs, and health care providers (HCPs) in order to develop a multinational eHealth platform targeting QoL of both HDGECs and partners at home.Methods: We will employ a participatory user-centered design (UCD) approach, which focusses on an in-depth understanding of the end-users' needs and their contexts. Premanifest and manifest adult HDGECs (n = 76), partners of HDGECs (n = 76), and HCPs (n = 76) will be involved as end-users in all three phases of the research and design process: (1) Exploration and mapping of the end-users' needs, experiences and wishes; (2) Development of concepts in collaboration with end-users to ensure desirability; (3) Detailing of final prototype with quick review rounds by end-users to create a positive user-experience. This study will be conducted in the Netherlands, Germany, Czech Republic, Italy, and Ireland to develop and test a multilingual platform that is suitable in different healthcare systems and cultural contexts.Discussion: Following the principles of UCD, an innovative European eHealth platform will be developed that addresses the needs and wishes of HDGECs, partners and HCPs. This allows for high-quality, tailored care to be moved partially into the participants' home, thereby circumventing some barriers in current HD care provision. By actively involving end-users in all design decisions, the platform will be tailored to the end-users' unique requirements, which can be considered pivotal in eHealth services for a disease as complex and rare as HD.

Highlights

Huntington’s Disease (HD) is a rare, autosomal dominant neurodegenerative disease characterized by progressive motor symptoms, cognitive impairments, and neuropsychiatric symptoms [1, 2]
As a result of the neurodegenerative nature of HD, the disease causes a progressive decline in functioning and significantly influences the quality of life (QoL) of both HD gene expansion carriers (HDGECs) and their partners [3, 8,9,10, 13]
As the disease progressively advances over time, challenges to seeking or accessing care might arise, leaving those with the greatest care need behind [20]. eHealth provides promising opportunities to overcome these barriers by improving the accessibility of care

Summary

Introduction

Huntington’s Disease (HD) is a rare, autosomal dominant neurodegenerative disease characterized by progressive motor symptoms, cognitive impairments, and neuropsychiatric symptoms [1, 2]. The disease is caused by a cytosine-adenineguanine (CAG) repeat expansion in the huntingtin (HTT) gene [1]. Children with an HD affected parent have a 50% risk of inheriting the HD gene expansion. Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease that affects the quality of life (QoL) of HD gene expansion carriers (HDGECs) and their partners. HD expertise centers have been emerging across Europe, there are still some important barriers to care provision for those affected by this rare disease, including transportation costs, geographic distance of centers, and availability/accessibility of these services in general. In the European HD-eHelp study, we aim to capture the needs and wishes of HDGECs, partners of HDGECs, and health care providers (HCPs) in order to develop a multinational eHealth platform targeting QoL of both HDGECs and partners at home

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