Schopp Emma M, Okwara Leonore, Tichnell Crystal, Turriff Amy, Murray Brittney, Barth Andreas S, Calkins Hugh, Jamal Leila, James Cynthia A
Center for Precision Health Research, National Human Genome Research Institute, Bethesda, MD (E.M.S., A.T.).
Department of Health, Behavior, and Society, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD (E.M.S.).
Circ Genom Precis Med. 2024 Dec;17(6):e004759. doi: 10.1161/CIRCGEN.124.004759. Epub 2024 Nov 29.
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.
Twenty adults with clinically diagnosed and gene-positive ARVC participated in semi-structured interviews that explored perceptions of gene therapy and hypothetical decision-making for gene therapy clinical trial participation. Interview transcripts were qualitatively coded and analyzed.
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.
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.
致心律失常性右室心肌病(ARVC)是一种进行性心脏遗传疾病,会增加室性心律失常、心力衰竭和心源性猝死的风险,目前尚无针对该疾病的特异性治疗方法。新兴的基因疗法有可能填补这一空白。然而,对于患有ARVC或任何其他遗传性心肌病或心律失常综合征的成年人如何评估基因治疗研究的风险和益处,以及哪些因素可能影响他们参与临床试验的决定,我们知之甚少。
20名临床诊断为基因阳性的ARVC成年患者参与了半结构化访谈,探讨了他们对基因治疗的看法以及参与基因治疗临床试验的假设性决策。对访谈记录进行了定性编码和分析。
参与者对基因治疗表示出热情,对参与试验的个人兴趣程度各不相同。尽管临床严重程度似乎与早期参与试验的兴趣增加有关,但参与者预计会权衡个人因素和试验特定因素,包括生活阶段、试验阶段、风险、益处、参与负担、研究负责人以及未来基因治疗的预期成本。适应ARVC生活以及参与ARVC患者群体也与试验参与决策相关。潜在的伦理问题包括对参与行业主导试验的临床团队的盲目信任,以及近期诊断出的患者或ARVC症状严重程度较高患者的脆弱性。
在知情同意过程中,需要考虑个体和试验的几个特征。本研究的见解可能会影响试验规划以及与患有遗传性心脏病患者的沟通。