Baronciani Donatella, Casale Maddalena, De Franceschi Lucia, Graziadei Giovanna, Longo Filomena, Origa Raffaella, Rigano Paolo, Pinto Valeria, Marchetti Monia, Gigante Antonia, Forni Gian Luca
UOC Immunoematologia e Trasfusionale, AORMN, Pesaro-Fano, Italy.
Università degli Studi della Campania «Luigi Vanvitelli», Napoli, Italy.
Hemasphere. 2021 Apr 29;5(5):e555. doi: 10.1097/HS9.0000000000000555. eCollection 2021 May.
This expert opinion originally developed by a panel of the Italian Society of Thalassemias and Hemoglobinopathies (SITE), reviewed and adopted by the European Hematology Association (EHA) through the EHA Scientific Working Group on Red Cells and Iron, has been developed as priority decision-making algorithm on evidence and consensus with the aim to identify which patients with transfusion-dependent beta-thalassemia (TDT) could benefit from a gene therapy (GT) approach. Even if the wide utilized and high successful allogeneic hematopoietic stem-cell transplantation provides the possibility to cure several patients a new scenario has been opened by GT. Therefore, it is important to establish the patients setting for whom it is priority indicated, particularly in the early phase of the diffuse use outside experimental trials conducted in high selected centers. Moreover, actual price, limited availability, and resources disposal constitute a further indication to a rational and progressive approach to this innovative treatment. To elaborate this algorithm, the experience with allogeneic transplantation has been used has a predictive model. In this large worldwide experience, it has been clearly demonstrated that key for the optimal transplant outcome is optimal transfusion and chelation therapy in the years before the procedure and consequently optimal patient's clinical condition. In the document, different clinical scenarios have been considered and analyzed for the possible impact on treatment outcome. According to the European Medicine Agency (EMA) for the GT product, this expert opinion must be considered as a dynamic, updatable, priority-based indications for physicians taking care of TDT patients.
本专家意见最初由意大利地中海贫血和血红蛋白病协会(SITE)的一个小组制定,经欧洲血液学协会(EHA)通过红细胞和铁科学工作组审查并采用,已被制定为基于证据和共识的优先决策算法,旨在确定哪些输血依赖型β地中海贫血(TDT)患者可从基因治疗(GT)方法中获益。即使广泛应用且成功率高的异基因造血干细胞移植为治愈多名患者提供了可能,但基因治疗开启了一种新的局面。因此,确定优先适用基因治疗的患者群体非常重要,尤其是在高选择中心进行的实验性试验之外广泛应用的早期阶段。此外,实际价格、有限的可及性和资源配置构成了对这种创新治疗采取合理和渐进方法的进一步指征。为详细阐述该算法,异体移植的经验已被用作预测模型。在这一全球范围内的大量经验中,已清楚表明,手术前数年的最佳输血和螯合疗法以及因此达到的最佳患者临床状况是实现最佳移植结果的关键。在本文件中,已考虑并分析了不同临床情况对治疗结果的可能影响。根据欧洲药品管理局(EMA)对基因治疗产品的规定,本专家意见必须被视为为TDT患者提供的动态、可更新、基于优先级的指征,供医生参考。