BACKGROUND: No disease-specific therapy currently exists for arrhythmogenic right ventricular cardiomyopathy (ARVC), a progressive cardiogenetic condition conferring elevated risk for ventricular arrhythmias, heart failure, and sudden cardiac death. Emerging gene therapies have the potential to fill this gap. However, little is known about how adults with ARVC, or any other inherited cardiomyopathy or arrhythmia syndrome, appraise the risks and benefits of gene therapy research and which considerations may influence their decisions about clinical trial participation. METHODS: Twenty adults with clinically diagnosed and gene-positive ARVC participated in semistructured interviews that explored perceptions of gene therapy and hypothetical decision-making for gene therapy clinical trial participation. Interview transcripts were qualitatively coded and analyzed. RESULTS: Participants expressed enthusiasm for gene therapy with varied levels of personal interest in trial participation. Although clinical severity appeared to be associated with an elevated interest in early trial participation, participants anticipated weighing both personal and trial-specific factors including life stage, trial stage, risks, benefits, participation burden, study leadership, and anticipated cost of future gene therapy. Adaptation to living with ARVC and involvement in the ARVC patient community were also relevant to decision-making about trial participation. Potential ethical concerns included unquestioning trust in clinical teams collaborating on industry-led trials and vulnerability of those recently diagnosed or with high perceived severity of ARVC symptoms. CONCLUSIONS: Several characteristics of the individual and trial warrant consideration during the informed consent process. Insights from this study may affect trial planning and communication with participants who have inherited cardiac conditions.

Emma M. Schopp

Leonore Okwara

Crystal Tichnell

Amy Turriff

Brittney Murray

Andreas S. Barth

Hugh Calkins

Leila Jamal

Cynthia A. James

Circulation Genomic and Precision Medicine

流通：基因组学和精准医学考虑所有类型的原始研究文章，包括在人类受试者、实验动物、体外和计算机中进行的研究。文章可能包括以下研究：临床遗传学应用于单基因或寡基因心血管疾病的诊断和管理；复杂心血管疾病的分子基础，包括全基因组关联研究、基于外显子组和基因组测序的关联研究、编码变异关联研究、遗传连锁研究、表观基因组学、转录组学、蛋白质组学、代谢组学和宏基因组学；将电子健康记录数据或患者生成的数据与上述任何方法（包括表型关联研究）或环境或生活方式因素相结合；药物基因组学；基因表达调控；基因治疗和治疗性基因组编辑；心血管疾病诊断和管理的系统生物学方法；进行上述任何研究的新方法；以及精准医学的新应用。最重要的是，我们寻求与人类心血管生物学和疾病相关的研究。

The journal "Circulation. Genomic and Precision Medicine" encompasses all types of original research articles, including studies conducted in human subjects, experimental animals, in vitro, and computational settings. Articles may cover the following research areas: clinical genetics applications in the diagnosis and management of single-gene or polygenic cardiovascular diseases; the molecular basis of complex cardiovascular diseases, including genome-wide association studies, exome and genome sequencing association studies, coding variant association studies, genetic linkage studies, epigenomics, transcriptomics, proteomics, metabolomics, and metagenomics; integration of electronic health record data or patient-generated data with any of the aforementioned methods (including phenotype association studies) or environmental and lifestyle factors; pharmacogenomics; gene expression regulation; gene therapy and therapeutic genome editing; systems biology approaches to the diagnosis and management of cardiovascular diseases; novel methods for conducting any of the above research; and new applications of precision medicine. Importantly, we seek research related to human cardiovascular biology and disease.

《Circulation. Genomic and precision medicine》期刊涵盖所有类型的原创研究文章，包括在人类受试者、实验动物、体外实验和计算机模拟中进行的研究。文章可能涉及以下研究领域：临床遗传学在单基因或多基因心血管疾病的诊断和管理中的应用；复杂心血管疾病的分子基础，包括全基因组关联研究、外显子组和基因组测序的关联研究、编码变异关联研究、遗传连锁研究、表观基因组学、转录组学、蛋白质组学、代谢组学和宏基因组学；将电子健康记录数据或患者生成的数据与上述任何方法（包括表型关联研究）或环境和生活方式因素相结合；药物基因组学；基因表达调控；基因治疗和治疗性基因组编辑；心血管疾病诊断和管理的系统生物学方法；进行上述任何研究的新方法；以及精准医学的新应用。我们特别关注与人类心血管生物学和疾病相关的研究。

Category	Quartile
医学	2
医学, 遗传学	1
医学, 心脏和心血管系统	2

Patient Perceptions of Emerging Gene Therapies for Arrhythmogenic Right Ventricular Cardiomyopathy

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Journal Info

Category	Quartile
GENETICS & HEREDITY	1