Coutelle C, Themis M, Waddington S N, Buckley S M K, Gregory L G, Nivsarkar M S, David A L, Peebles D, Weisz B, Rodeck C
Gene Therapy Research Group, Division of Biomedical Sciences, Imperial College London, London, UK.
Gene Ther. 2005 Nov;12(22):1601-7. doi: 10.1038/sj.gt.3302632.
Somatic gene delivery in utero is a novel approach to gene therapy for genetic disease based on the hypothesis that prenatal intervention may avoid the development of severe manifestations of early-onset disease, allow targeting of otherwise inaccessible tissues including expanding stem cell populations, induce tolerance against the therapeutic transgenic protein and thereby provide permanent somatic gene correction. This approach is particularly relevant in relation to prenatal screening programmes for severe genetic diseases as it could offer prevention as a third option to families faced with the prenatal diagnosis of a genetically affected child. Most investigations towards in utero gene therapy have been performed on mice and sheep fetuses as model animals for human disease and for the application of clinically relevant intervention techniques such as vector delivery by minimally invasive ultrasound guidance. Other animals such as dogs may serve as particular disease models and primates have to be considered in immediate preparation for clinical trials. Proof of principle for the hypothesis of fetal gene therapy has been provided during the last 2 years in mouse models for Crigler Najjar Disease, Leber's congenital amaurosis, Pompe's disease and haemophilia B showing long-term postnatal therapeutic effects and tolerance of the transgenic protein after in utero gene delivery. However, recently we have also observed a high incidence of liver tumours after in utero application of an early form of third-generation equine infectious anaemia virus vectors with SIN configuration. These findings highlight the need for more investigations into the safety and the ethical aspects of in utero gene therapy as well as for science-based public information on risks and benefits of this preventive gene therapy approach before application in humans can be contemplated.
子宫内体细胞基因递送是一种用于治疗遗传疾病的新型基因治疗方法,其基于这样的假设:产前干预可避免早发性疾病严重症状的发展,能够靶向包括不断扩大的干细胞群体在内的其他难以触及的组织,诱导对治疗性转基因蛋白的耐受性,从而实现永久性体细胞基因校正。这种方法与严重遗传疾病的产前筛查项目尤为相关,因为它可以为面临患有遗传疾病胎儿产前诊断的家庭提供预防这一第三种选择。大多数子宫内基因治疗研究是在小鼠和绵羊胎儿身上进行的,将其作为人类疾病的模型动物,并应用临床相关的干预技术,如在微创超声引导下进行载体递送。其他动物,如狗,可作为特定疾病模型,而灵长类动物则必须在为临床试验做直接准备时加以考虑。在过去两年中,在克里格勒 - 纳贾尔病、莱伯先天性黑矇、庞贝病和乙型血友病的小鼠模型中,已为胎儿基因治疗假说提供了原理证明,显示出子宫内基因递送后长期的产后治疗效果以及对转基因蛋白的耐受性。然而,最近我们还观察到,在子宫内应用早期形式的具有自我失活(SIN)构型的第三代马传染性贫血病毒载体后,肝肿瘤的发生率很高。这些发现凸显了在子宫内基因治疗的安全性和伦理方面进行更多研究的必要性,以及在考虑将这种预防性基因治疗方法应用于人类之前,基于科学提供有关其风险和益处的公众信息的必要性。