OBJECTIVES: As initiatives progress in the development of gene therapy for inheritable arrhythmogenic cardiomyopathies, this study, part of the GEREMY (Gene Therapy for treatment of rare inherited Arrhythmogenic Cardiomyopathy) project, is designed to gather insights into the unmet health-related needs of carriers. Needs range from impact on physical health and quality of care to impact on work and beyond. Results aim to tailor (gene therapy) drug development, healthcare settings and treatment decision-making to the needs of these patients.

METHODS: A literature review with a systematic search is being conducted in Pubmed and Embase, using “Arrhythmogenic Cardiomyopathy” and its synonyms to identify existing needs of these patients. Subsequently, a generic survey developed within the NEED (Needs Examination, Evaluation, and Dissemination) assessment framework is being disseminated among individuals diagnosed with Arrhythmogenic Cardiomyopathy at UZ Leuven (Belgium) and UMC Utrecht (The Netherlands). The survey is available in Dutch, French and English and includes 71 questions focussing on health-, healthcare- and social needs of patients. Descriptive statistics will be used to describe characteristics of participants. Several statistical tests will be performed on a selection of variables in order to identify potential relationships between demographic characteristics, clinical factors and the EQ-5D-5L utility scores.

RESULTS: The study has been initiated and data collection is currently ongoing. Full results will be presented on the conference.

CONCLUSIONS: This research forms the first phase of the UR-HEART (Understanding the preferences and unmet health-related needs of patients with arrhythmogenic cardiomyopathy) study, aiming to identify disease- and treatment characteristics that determine the needs of carriers and their willingness to make trade-offs between potential side-effects and anticipated benefits of current management and a future gene therapy.