Gene Therapy Research Center, Digestive Diseases Research Institute, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Eur J Neurol. 2023 Sep;30(9):2919-2945. doi: 10.1111/ene.15871. Epub 2023 Jun 8.
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.
由于先前关于米格列醇在神经节苷脂贮积症（GM2g）中的安全性和疗效的研究结果不一致，我们旨在评估米格列醇治疗 GM2g 患者的效果。
本研究遵循 PRISMA 的最新版本。我们通过搜索 PubMed、Web of Science 和 Scopus 纳入了报告 GM2g 患者接受米格列醇治疗的观察性或干预性研究。提取的数据包括个体患者数据的自然史，以及米格列醇在 GM2g 患者中的安全性和疗效。使用 Joanna Briggs 研究所的批判性评估清单进行质量评估。
共确定了 1023 条记录，去除重复项后减少至 621 条。经过筛选和应用纳入标准，有 10 篇文章和 2 篇摘要符合纳入标准。总体而言，这些研究代表了 54 名接受米格列醇治疗的 GM2g 患者和 22 名 GM2g 对照组患者。在有可用数据的患者中，分别有 14 名和 54 名被诊断为桑德霍夫病和泰萨二氏病。本综述纳入的患者包括 23 名婴儿期、4 名晚婴期、18 名少年期和 31 名成年期 GM2g。
尽管米格列醇不应被视为 GM2g 的明确治疗方法，但它似乎使患者，特别是婴儿期或晚婴期 GM2g 患者，在一定程度上受益于米格列醇治疗。我们还对未来的研究提出了一些建议，建议以标准格式呈现其研究结果，以便在这些罕见疾病中更全面地总结现有数据。
