Somaraju Usha R, Tadepalli Krishna
Star Hospitals, Banjara Hills, Hyderabad, India, 500034.
Cochrane Database Syst Rev. 2017 Oct 18;10(10):CD006974. doi: 10.1002/14651858.CD006974.pub4.
Gaucher disease is the most common lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase. Current treatment of the disease involves a choice from enzyme replacement therapy, substrate reduction therapy and hemotopoietic stem cell transplantation (HSCT). HSCT is a high risk procedure with possible long-term benefits in the regression of skeletal and neurological changes in people with Gaucher disease. This is an update of a previously published Cochrane Review.
To determine the role of HSCT in people with Gaucher disease in relation to: mortality risk associated with the procedure; efficacy in modifying the course of the disease; and arrest or regression of neurological manifestations in neuronopathic forms (types 2 and 3).
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Inborn Errors of Metabolism Trials Register which comprises of references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.Date of the most recent search of the Group's Haemoglobinopathies Trials Register: 19 January 2017.We also searched the websites: www.clinicaltrials.gov; WHO International Clinical Trials Registry Platform portal and www.genzymeclinicalresearch.com. Date of most recent search of these sites: 02 March 2017.
All randomised, quasi-randomised and controlled clinical trials comparing stem cell transplantation with enzyme replacement therapy, substrate reduction therapy, symptomatic treatment or no treatment in people with Gaucher disease of all ages.
We independently assessed trials for inclusion, however, no relevant trials were identified.
Thirty two trials were identified by the searches; however, these were not suitable for inclusion in the review.
AUTHORS' CONCLUSIONS: HSCT is a form of treatment that offers the potential of permanent cure. However, there are no clinical trials that have assessed the safety and efficacy of this treatment in comparison to other conservative measures (enzyme replacement therapy, substrate reduction therapy) now in use.There are no trials included in the review and we have not identified any relevant trials up to March 2017. We therefore do not plan to update this review until new trials are published.
戈谢病是最常见的溶酶体贮积症，由葡萄糖脑苷脂酶缺乏引起。目前该疾病的治疗方法包括酶替代疗法、底物减少疗法和造血干细胞移植（HSCT）。HSCT是一种高风险的治疗手段，对戈谢病患者骨骼和神经病变的消退可能具有长期益处。这是对之前发表的Cochrane系统评价的更新。
确定HSCT在戈谢病患者中的作用，涉及：与该治疗手段相关的死亡风险；改变疾病进程的疗效；以及在神经病变型（2型和3型）中神经症状的缓解或消退情况。
我们检索了Cochrane囊性纤维化和遗传疾病组先天性代谢缺陷试验注册库，该注册库包含从全面的电子数据库检索以及对相关期刊和会议论文摘要集的手工检索中识别出的参考文献。该组血红蛋白病试验注册库的最新检索日期：2017年1月19日。我们还检索了以下网站：www.clinicaltrials.gov；世界卫生组织国际临床试验注册平台门户以及www.genzymeclinicalresearch.com。这些网站的最新检索日期：2017年3月2日。
所有比较干细胞移植与酶替代疗法、底物减少疗法、对症治疗或不治疗的随机、半随机和对照临床试验，受试对象为各年龄段的戈谢病患者。
我们独立评估试验是否纳入，但未识别出相关试验。
检索共识别出32项试验，但这些试验不适合纳入本评价。
HSCT是一种有可能实现永久治愈的治疗方式。然而，尚无临床试验评估该治疗与目前使用的其他保守措施（酶替代疗法、底物减少疗法）相比的安全性和疗效。本评价未纳入任何试验，截至2017年3月我们也未识别出任何相关试验。因此，在有新试验发表之前，我们不计划更新本评价。
