Somaraju Usha Rani, Tadepalli Krishna
Department of Biochemistry and Genetics, Trinity School ofMedicine, Kingstown, Saint Vincent and The Grenadines.
Cochrane Database Syst Rev. 2012 Jul 11(7):CD006974. doi: 10.1002/14651858.CD006974.pub3.
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 among enzyme replacement therapy, substrate reduction therapy and stem cell transplantation. Stem cell transplantation is a high risk procedure with possible long-term benefits in the regression of skeletal and neurological changes in people with Gaucher disease.
To determine the role of hematopoietic stem cell transplantation 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 neuropathic 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: 26 March 2012.We also searched the websites www.clinicaltrials.gov and www.genzymeclinicalresearch.com. Date of most recent search of these sites: 16 February 2012.
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.
Twelve trials were identified by the searches, however, these were not suitable for inclusion in the review.
AUTHORS' CONCLUSIONS: Stem cell transplantation 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 stem cell transplantation in comparison to other conservative measures (enzyme replacement therapy, substrate reduction therapy) now in use.
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、底物减少疗法和干细胞移植。干细胞移植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。
确定造血干细胞移植在戈谢病患者中的作用，具体涉及：该治疗手段相关的死亡风险；改变疾病进程的疗效；以及在2型和3型神经病变型中神经症状的停止或消退情况。
我们检索了Cochrane囊性纤维化和遗传性疾病组先天性代谢缺陷试验注册库，该注册库包含通过全面电子数据库检索、相关期刊手工检索以及会议论文摘要书籍检索所识别的参考文献。该组血红蛋白病试验注册库的最新检索日期：2012年3月26日。我们还检索了www.clinicaltrials.gov和www.genzymeclinicalresearch.com网站。这些网站的最新检索日期：2012年2月16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。
我们独立评估纳入试验，但未识别出相关试验。
检索到12项试验，但这些试验不适合纳入本综述。
干细胞移植是一种有可能实现永久治愈的治疗方式。然而，目前尚无临床试验评估干细胞移植相较于现有的其他保守治疗措施（酶替代疗法、底物减少疗法）的安全性和疗效。
