Venturiello Damiano, Tiberi Pier Giorgio, Perulli Francesco, Nardoianni Giulia, Guida Leonardo, Barsali Carlo, Terrone Carlo, Cianca Alessandro, Lustri Camilla, Sclafani Matteo, Tini Giacomo, Barbato Emanuele, Musumeci Beatrice
Cardiology, Clinical and Molecular Medicine Department, Sapienza University of Rome, 00189 Rome, Italy.
Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London SW3 6PY, UK.
Int J Mol Sci. 2024 Dec 6;25(23):13147. doi: 10.3390/ijms252313147.
For years, the treatment of many cardiomyopathies has been solely focused on symptom management. However, cardiomyopathies have a genetic substrate, and directing therapy towards the pathophysiology rather than the epiphenomenon of the disease may be a winning strategy. Gene therapy involves the insertion of genes or the modification of existing ones and their regulatory elements through strategies like gene replacement and gene editing. Recently, gene therapy for cardiac amyloidosis and Duchenne muscular dystrophy has received approval, and important clinical trials are currently evaluating gene therapy methods for rare heart diseases like Friedreich's Ataxia, Danon disease, Fabry disease, and Pompe Disease. Furthermore, favorable results have been noted in animal studies receiving gene therapy for hypertrophic, dilated, and arrhythmogenic cardiomyopathy. This review discusses gene therapy methods, ongoing clinical trials, and future goals in this area.
多年来,许多心肌病的治疗一直仅专注于症状管理。然而,心肌病具有遗传基础,针对疾病的病理生理学而非其表象进行治疗可能是一种成功的策略。基因治疗涉及通过基因替代和基因编辑等策略插入基因或修饰现有基因及其调控元件。最近,用于心脏淀粉样变性和杜氏肌营养不良症的基因治疗已获批准,重要的临床试验目前正在评估针对弗里德赖希共济失调、丹侬病、法布里病和庞贝病等罕见心脏病的基因治疗方法。此外,在接受基因治疗的肥厚型、扩张型和致心律失常性心肌病动物研究中已观察到良好结果。本综述讨论了该领域的基因治疗方法、正在进行的临床试验以及未来目标。