Abstract：
Since the results of previous studies regarding the safety and efficacy of miglustat in GM2 gangliosidosis (GM2g) were inconsistent, we aimed to assess miglustat therapy in GM2g patients.
This study followed the latest version of PRISMA. We included the observational or interventional studies reporting GM2g patients under miglustat therapy by searching PubMed, Web of Science, and Scopus. Data extracted included the natural history of individual patient data, as well as the safety and efficacy of miglustat in GM2g patients. The quality assessment was performed using the Joanna Briggs Institute Critical Appraisal checklist.
A total of 1023 records were identified and reduced to 621 after removing duplicates. After screening and applying the eligibility criteria, 10 articles and 2 abstracts met the inclusion criteria. Overall, the studies represented 54 patients with GM2g under treatment with miglustat and 22 patients with GM2g in the control group. Among patients with available data, 14 and 54 have been diagnosed with Sandhoff disease and Tay-Sachs disease, respectively. Patients included in this review consisted of 23 infantile, 4 late-infantile, 18 juvenile, and 31 adult-onset GM2g.
Although miglustat should not be considered a definite treatment for GM2g, it appears that patients, particularly those with infantile or late-infantile GM2g, could benefit from miglustat therapy to some extent. We also make some suggestions regarding future studies presenting their findings in a standard format to facilitate pooling the available data in such rare diseases for a more comprehensive conclusion.
This study followed the latest version of PRISMA. We included the observational or interventional studies reporting GM2g patients under miglustat therapy by searching PubMed, Web of Science, and Scopus. Data extracted included the natural history of individual patient data, as well as the safety and efficacy of miglustat in GM2g patients. The quality assessment was performed using the Joanna Briggs Institute Critical Appraisal checklist.
A total of 1023 records were identified and reduced to 621 after removing duplicates. After screening and applying the eligibility criteria, 10 articles and 2 abstracts met the inclusion criteria. Overall, the studies represented 54 patients with GM2g under treatment with miglustat and 22 patients with GM2g in the control group. Among patients with available data, 14 and 54 have been diagnosed with Sandhoff disease and Tay-Sachs disease, respectively. Patients included in this review consisted of 23 infantile, 4 late-infantile, 18 juvenile, and 31 adult-onset GM2g.
Although miglustat should not be considered a definite treatment for GM2g, it appears that patients, particularly those with infantile or late-infantile GM2g, could benefit from miglustat therapy to some extent. We also make some suggestions regarding future studies presenting their findings in a standard format to facilitate pooling the available data in such rare diseases for a more comprehensive conclusion.
摘要：
背景：由于先前关于miglustat在GM2神经节苷脂沉积症（GM2g）中的安全性和有效性的研究结果不一致，我们旨在评估MM2g患者的Miglustat治疗。
方法：本研究遵循最新版本的PRISMA。我们通过搜索PubMed纳入了观察性或介入性研究，报告接受miglustat治疗的GM2g患者，WebofScience,还有Scopus.提取的数据包括患者个体的自然史数据,以及Miglustat在GM2g患者中的安全性和有效性。质量评估是使用JoannaBriggs研究所关键评估清单进行的。
结果：共识别出1023条记录，删除重复项后减少到621条记录。在筛选和应用资格标准后，10篇文章和2篇摘要符合纳入标准。总的来说,这些研究代表了接受米格卢司他治疗的54例GM2g患者和对照组的22例GM2g患者。在有14和54名可用数据的患者中，已被诊断出患有Sandhoff病（SD）和Tay-Saches病（TSD），分别。纳入本综述的患者包括23名婴儿，4婴儿晚期，18名少年，和31成人发病GM2g。
结论：尽管miglustat不应被视为GM2g的明确治疗方法，似乎患者,特别是婴儿或晚期婴儿GM2g患者,可以在一定程度上受益于miglustat治疗.我们还为未来的研究提供了一些提示，以标准方法展示他们的发现，以便更有可能汇集此类罕见疾病的可用数据，以获得更全面的结论。
方法：本研究遵循最新版本的PRISMA。我们通过搜索PubMed纳入了观察性或介入性研究，报告接受miglustat治疗的GM2g患者，WebofScience,还有Scopus.提取的数据包括患者个体的自然史数据,以及Miglustat在GM2g患者中的安全性和有效性。质量评估是使用JoannaBriggs研究所关键评估清单进行的。
结果：共识别出1023条记录，删除重复项后减少到621条记录。在筛选和应用资格标准后，10篇文章和2篇摘要符合纳入标准。总的来说,这些研究代表了接受米格卢司他治疗的54例GM2g患者和对照组的22例GM2g患者。在有14和54名可用数据的患者中，已被诊断出患有Sandhoff病（SD）和Tay-Saches病（TSD），分别。纳入本综述的患者包括23名婴儿，4婴儿晚期，18名少年，和31成人发病GM2g。
结论：尽管miglustat不应被视为GM2g的明确治疗方法，似乎患者,特别是婴儿或晚期婴儿GM2g患者,可以在一定程度上受益于miglustat治疗.我们还为未来的研究提供了一些提示，以标准方法展示他们的发现，以便更有可能汇集此类罕见疾病的可用数据，以获得更全面的结论。
