镰状细胞病的基因治疗。
Gene therapy for sickle cell disease.
作者信息
Olowoyeye Abiola, Okwundu Charles I
机构信息
Children's Hospital Los Angeles, Los Angeles, California, USA.
Centre for Evidence-based Health Care, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
出版信息
Cochrane Database Syst Rev. 2020 Nov 30;11(11):CD007652. doi: 10.1002/14651858.CD007652.pub7.
BACKGROUND
Sickle cell disease encompasses a group of genetic disorders characterized by the presence of at least one hemoglobin S (Hb S) allele, and a second abnormal allele that could allow abnormal haemoglobin polymerisation leading to a symptomatic disorder. Autosomal recessive disorders (such as sickle cell disease) are good candidates for gene therapy because a normal phenotype can be restored in diseased cells with only a single normal copy of the mutant gene. This is an update of a previously published Cochrane Review.
OBJECTIVES
The objectives of this review are: - to determine whether gene therapy can improve survival and prevent symptoms and complications associated with sickle cell disease; - to examine the risks of gene therapy against the potential long-term gain for people with sickle cell disease.
SEARCH METHODS
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, which comprises of references identified from comprehensive electronic database searches and searching relevant journals and abstract books of conference proceedings. We also searched online trial registries, Date of the most recent search of the Group's Haemoglobinopathies Trials Register: 21 September 2020.
SELECTION CRITERIA
All randomised or quasi-randomised clinical trials (including any relevant phase 1, 2 or 3 trials) of gene therapy for all individuals with sickle cell disease, regardless of age or setting.
DATA COLLECTION AND ANALYSIS
No trials of gene therapy for sickle cell disease were found.
MAIN RESULTS
No trials of gene therapy for sickle cell disease were reported.
AUTHORS' CONCLUSIONS: No randomised or quasi-randomised clinical trials of gene therapy for sickle cell disease were reported. Thus, no objective conclusions or recommendations in practice can be made on gene therapy for sickle cell disease. This systematic review has identified the need for well-designed, randomised controlled trials to assess the benefits and risks of gene therapy for sickle cell disease.
背景
镰状细胞病是一组遗传性疾病，其特征是至少存在一个血红蛋白S（Hb S）等位基因，以及另一个异常等位基因，该异常等位基因可导致异常血红蛋白聚合，从而引发症状性疾病。常染色体隐性疾病（如镰状细胞病）是基因治疗的理想对象，因为只需在病变细胞中引入一个突变基因的正常拷贝，就能恢复正常表型。这是对之前发表的Cochrane系统评价的更新。
目的
本系统评价的目的是：- 确定基因治疗是否能提高镰状细胞病患者的生存率，并预防与其相关的症状和并发症；- 权衡基因治疗的风险与对镰状细胞病患者潜在的长期益处。
检索方法
我们检索了Cochrane囊性纤维化和遗传性疾病组血红蛋白病试验注册库，该注册库包括通过全面电子数据库检索、检索相关期刊以及会议论文摘要集所确定的参考文献。我们还检索了在线试验注册库。该组血红蛋白病试验注册库的最新检索日期为2020年9月21日。
入选标准
所有针对镰状细胞病患者的基因治疗随机或半随机临床试验（包括任何相关的1期、2期或3期试验），无论年龄或研究背景如何。
数据收集与分析
未找到镰状细胞病基因治疗的试验。
主要结果
未报告镰状细胞病基因治疗的试验。
作者结论
未报告镰状细胞病基因治疗的随机或半随机临床试验。因此，在实践中无法对镰状细胞病的基因治疗得出客观结论或提出建议。本系统评价表明，需要开展设计良好的随机对照试验，以评估镰状细胞病基因治疗的益处和风险。
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