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2016年6月6日 讯 /生物谷BIOON/ –近日，世界首个用于儿童治疗的基因疗法获得欧盟委员会(European Commission)批准，这项名为Strimvelis的基因疗法或将开启儿童疗法研究的新时代，相关研究刊登于国际杂志Blood上。该疗法可以治疗重症联合免疫缺陷（ADA-SCID）的患儿，这种疾病是一种非常罕见的儿童疾病，其在患儿受影响的极短时间内往往具有明显的致死率。
重症联合免疫缺陷疾病会使得新生儿对于病毒和细菌没有任何抵抗力，而且该病和X 连锁重症联合免疫缺陷（X-SCID）症密切相关，这种新型基因疗法为何如此特别，因为其是首个利用遗传修复技术来治疗疾病的商用化疗法，目前该疗法在欧洲终于获得批准。
ADA-SCID是由遗传自父母双方的错误基因所引发的疾病，在欧洲该疾病大约每年会影响15位患儿的健康，来自父母机体中错误的基因会影响患儿机体腺苷脱氨酶蛋白的产生，而该蛋白是产生淋巴细胞所必需的，通过在患儿一岁之前ADA-SCID疾病具有致死性。当前研究人员利用风险性的骨髓移植或昂贵的酶类移植疗法来治疗重症联合免疫缺陷症，而在Strimvelis基因疗法中，研究者将来自患儿骨髓中的干细胞进行移除并在检测管中进行纠正去除错误基因，随后重新导入患儿机体中。
来自斯坦福大学的研究者Maria-Grazia Roncarolo说道，如果想治疗一种疾病，我们就需要将该错误基因置于干细胞中；另一外研究者Martin Andrews指出，这项研究为我们开启了罕见遗传疾病的新篇章，我们希望这种新型的基因疗法未来可以用来帮助治疗更多罕见疾病的患者。
基因疗法技术如今非常“新潮”，在将这种疗法引入到正常治疗中科学家和监管部门往往非常谨慎，然而这种疗法往往会对临床治疗带来极大帮助，同时该疗法也需要对构建我们机体的基础元件进行操作来发挥作用，替换汽车引擎中的部件往往是一件麻烦的事情，而基因疗法亦是如此。
研究者表示，临床试验中利用Strimvelis疗法治疗的18个儿童中，根据患儿治疗的持续时间，其100%的生存率都维持在2.3年至13.4年之间，这就表明Strimvelis疗法的确可以移除患儿机体中的错误基因并且不会产生任何副作用。GSK公司基因疗法发展部经理Sven Kili表示，尽管目前并没有任何理由认为这种疗法不能持续太久时间，我仍然会犹豫是否将这种疗法称之为一种新型的治疗方法。（基因宝jiyinbao.com）
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doi:10.1182/blood-2016-01-688226
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Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency
Maria Pia Cicalese1, Francesca Ferrua1, Laura Castagnaro1, Roberta Pajno2, Federica Barzaghi1, Stefania Giannelli1, Francesca Dionisio1, Immacolata Brigida1, Marco Bonopane1, Miriam Casiraghi1, Antonella Tabucchi3, Filippo Carlucci3, Eyal Grunebaum4, Mehdi Adeli5, Robbert G. Bredius6, Jennifer M. Puck7, Polina Stepensky8, Ilhan Tezcan9, Katie Rolfe10, Erika De Boever10, Rickey R. Reinhardt10, Jonathan Appleby10, Fabio Ciceri11, Maria Grazia Roncarolo1, and Alessandro Aiuti1,*
Adenosine deaminase (ADA) deficiency is a rare, autosomal recessive systemic metabolic disease characterized by severe combined immunodeficiency (SCID). The treatment of choice for ADA-deficient SCID (ADA-SCID) is hematopoietic stem cell transplant (SCT) from a human leukocyte antigen (HLA)-matched sibling donor, although fewer than 25% of patients have such a donor available. Enzyme replacement therapy (ERT) partially and temporarily relieves immunodeficiency. We investigated the medium-term outcome of gene therapy (GT) in 18 patients with ADA-SCID for whom an HLA-identical family donor was not available; most were not responding well to ERT. Patients were treated with an autologous CD34+ enriched cell fraction that contained CD34+ cells transduced with a retroviral vector encoding the human ADA cDNA sequence (GSK2696273) as part of single-arm, open-label studies or compassionate use programs. Overall survival was 100% over 2.3 to 13.4 years (median: 6.9 years). Gene-modified cells were stably present in multiple lineages throughout follow up. GT resulted in a sustained reduction in the severe infection rate from 1.17 events per person-year to 0.17 events per person-year (n=17, Patient 1 data not available). Immune reconstitution was demonstrated by normalization of T cell subsets (CD3+, CD4+, and CD8+), evidence of thymopoiesis, and sustained T cell proliferative capacity. B cell function was evidenced by immunoglobulin production, decreased intravenous immunoglobulin use, and antibody response after vaccination. All 18 patients reported infections as adverse events; infections of respiratory and gastrointestinal tracts were reported most frequently. No events indicative of leukemic transformation were reported. Trial details are registered at www.clinicaltrials.gov as #NCT00598481.
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会议时间：2016.06.25-2016.06.26 会议地点：上海