Center for Bleeding Disorders and Coagulation, Department of Oncology, Careggi University Hospital, Florence, Italy.
Department of Clinical Medicine, Federico II University, School of Medicine, Scientific Executive, Governance Headquarters, Campania Network for Inherited Bleeding Disorders, Napoli, Italy.
J Thromb Haemost. 2024 Nov;22(11):3084-3096. doi: 10.1016/j.jtha.2024.07.029. Epub 2024 Aug 22.
Gene therapy is designed to provide people with hemophilia B with a steady and elevated factor (F)IX activity, thereby strengthening protection and relieving the burden of frequent replacement therapy infusions. The European Medicines Agency has approved gene therapy for the severe and moderately severe forms of hemophilia B that uses the FIX-Padua variant (etranacogene dezaparvovec).
The aim was to provide a document dedicated to hemophilia B gene therapy and give a comprehensive overview of the topic.
An Italian group of experts in hemophilia carried out a narrative review of the literature and discussed during a virtual meeting several key aspects of the delivery of this treatment in Italy. The discussion covered the organizational model, the role of the multidisciplinary team, the laboratory surveillance, and the patient's journey, from the follow-up to the identification of safety issues and outcome measures.
This article highlights the need to follow the Hub and Spoke organizational model and sheds light on the role of each professional figure within the multidisciplinary teams to favor patient engagement, management, and retention. Moreover, this article stresses the need to perform laboratory tests for patient screening and follow-up and proposes a checklist to help patient identification. Finally, the needs of Italian hemophilia centers have been considered to ensure an efficient implementation of the care delivery model.
It is crucial to ensure that centers are appropriately organized, equipped, and trained to adequately select patients, deliver the gene therapy, and perform follow-up.
基因治疗旨在为乙型血友病患者提供稳定且升高的因子（FIX）活性，从而加强保护并减轻频繁更换治疗输注的负担。欧洲药品管理局已批准使用 FIX-Padua 变体（etanacogene dezaparvovec）的基因疗法治疗乙型血友病的重度和中度重度形式。
旨在提供一篇专门针对乙型血友病基因治疗的文献，并对该主题进行全面概述。
意大利血友病专家组对文献进行了叙述性综述，并在一次虚拟会议上讨论了在意大利提供这种治疗的几个关键方面。讨论涵盖了组织模式、多学科团队的作用、实验室监测以及患者的治疗过程，包括从随访到识别安全问题和疗效评估。
本文强调了遵循“中心辐射”组织模式的必要性，并阐明了多学科团队中每个专业人员的作用，以促进患者的参与、管理和保留。此外，本文强调了进行患者筛查和随访的实验室检测的必要性，并提出了一份检查表以帮助患者识别。最后，考虑到意大利血友病中心的需求，以确保有效的实施护理提供模式。
确保中心得到适当的组织、装备和培训，以充分选择患者、提供基因治疗并进行随访至关重要。
