Patient Preferences in Gene Therapy Development for Arrhythmogenic Cardiomyopathy: The UR-HEART Qualitative Study
Author(s)
Phaedra Locquet, MSc1, Eva Van Steijvoort, PhD2, Pascal Borry, PhD2, Margaux Reckelbus, MSc2, Tomas Robyns, MD, PhD3, Isabelle Huys, PharmD, PhD1.
1Department of Pharmaceutical and Pharmacological Sciences, Clinical Pharmacology and Pharmacotherapy, KU Leuven, Leuven, Belgium, 2Department of Public Health and Primary Care, Centre for Biomedical Ethics and Law, KU Leuven, Leuven, Belgium, 3Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium.
1Department of Pharmaceutical and Pharmacological Sciences, Clinical Pharmacology and Pharmacotherapy, KU Leuven, Leuven, Belgium, 2Department of Public Health and Primary Care, Centre for Biomedical Ethics and Law, KU Leuven, Leuven, Belgium, 3Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium.
OBJECTIVES: As advances continue in the development of gene therapy for heritable arrhythmogenic cardiomyopathies (ACM), this study, conducted as part of the GEREMY (Gene Therapy for treatment of rare inherited Arrhythmogenic Cardiomyopathy) project, aims to identify key disease- and gene therapy-related attributes relevant to carriers. This is especially relevant for rare diseases, where the introduction of innovative therapies is often accompanied by significant challenges, including high treatment costs, small target populations, geographic dispersion and limited availability of patient-experience data. Since ACM gene therapy remains far from clinical trials, this study will provide essential insights to inform future trial design and therapy development, ensuring treatments align with patient needs and preferences.
METHODS: This qualitative study will employ semi-structured interviews with carriers of PKP2 or PLN pathogenic variants living in Belgium. Participants will be asked to reflect on unmet health-related needs and to share perspectives on disease- and gene therapy-related characteristics, ranking them by perceived importance. These attributes encompass anticipated benefits, tolerance for side effects, the nature and administration of gene therapy, gene editing considerations, and preferences regarding the optimal disease stage for therapy initiation. Interviews will be transcribed ad verbatim and analysed using thematic framework analysis.
RESULTS: The interview process is currently ongoing. Preliminary findings suggest that carriers primarily experience psychological distress and reduced physical endurance. Gene therapy is generally considered a last resort option rather than a preventive approach. Key concerns include side effects, off-target effects, and the unpredictable nature of disease progression, which complicates decisions about timing. Willingness to participate in trials depends on disease stage, carriers’ age, trust in physicians, and perceived therapy effectiveness. Carriers experiencing stable disease tend to prefer waiting and show greater risk aversion when considering participation in gene therapy clinical trials.
CONCLUSIONS: The identified attributes will guide the development of a preference survey to quantify ACM carriers’ trade-offs.
METHODS: This qualitative study will employ semi-structured interviews with carriers of PKP2 or PLN pathogenic variants living in Belgium. Participants will be asked to reflect on unmet health-related needs and to share perspectives on disease- and gene therapy-related characteristics, ranking them by perceived importance. These attributes encompass anticipated benefits, tolerance for side effects, the nature and administration of gene therapy, gene editing considerations, and preferences regarding the optimal disease stage for therapy initiation. Interviews will be transcribed ad verbatim and analysed using thematic framework analysis.
RESULTS: The interview process is currently ongoing. Preliminary findings suggest that carriers primarily experience psychological distress and reduced physical endurance. Gene therapy is generally considered a last resort option rather than a preventive approach. Key concerns include side effects, off-target effects, and the unpredictable nature of disease progression, which complicates decisions about timing. Willingness to participate in trials depends on disease stage, carriers’ age, trust in physicians, and perceived therapy effectiveness. Carriers experiencing stable disease tend to prefer waiting and show greater risk aversion when considering participation in gene therapy clinical trials.
CONCLUSIONS: The identified attributes will guide the development of a preference survey to quantify ACM carriers’ trade-offs.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
PCR181
Topic
Clinical Outcomes, Medical Technologies, Patient-Centered Research
Topic Subcategory
Patient Behavior and Incentives, Patient-reported Outcomes & Quality of Life Outcomes
Disease
Cardiovascular Disorders (including MI, Stroke, Circulatory), Genetic, Regenerative & Curative Therapies, Rare & Orphan Diseases