■法布里病(FD)是一种遗传性溶酶体贮积症,其特征是α-半乳糖苷酶A(α-GalA)活性丧失/降低。我们旨在系统地评估Migalastat的安全性和有效性,口服药物伴侣,已被批准用于治疗具有顺从性突变的FD患者。
■我们根据截至2024年2月4日的主要数据库中的PRISMA指南进行了文献检索,以评估米加司他在FD患者中的临床结果。采用新城堡渥太华量表对纳入研究的质量进行评价。
■通过数据库搜索和注册搜索共识别出2141条记录,其中筛选了30条记录,其中12个被排除在外。其余20份报告已被检索。对检索到的12篇文章进行了资格评估,并对其质量进行了评估。在纳入的研究中,5是高质量的,6个中等质量,1质量低。
■Migalastat对酶活性和底物水平表现出不同的影响,在GL-3底物活性和eGFR方面存在性别差异。总的来说,它改善了心脏和肾脏的结果,类似于酶替代疗法,具有可比的安全性。
UNASSIGNED: Fabry\'s disease (FD) is a genetic lysosomal storage disorder characterized by α-galactosidase A (α-Gal A) lost/reduced activity. We aim to systematically assess the safety and efficacy of Migalastat, an oral pharmacological chaperone, that has been approved for the treatment of FD in patients with amenable mutations.
UNASSIGNED: We conducted literature search following the PRISMA guidelines in major databases up to 4 February 2024, for studies that assessed the clinical outcomes of migalastat in patients with FD. The New Castle Ottawa Scale was used to evaluate the quality of the included studies.
UNASSIGNED: A total of 2141 records were identified through database searches and register searches, amongst which 26 records were screened, and 12 of these were excluded. The remaining 14 reports were sought for retrieval. The 12 retrieved articles were assessed for eligibility and their quality was assessed after their inclusion. Amongst the included studies, 5 were of high quality, 6 were of medium quality, and 1 was of low quality.
UNASSIGNED: Migalastat showed varied effects on enzyme activity and substrate levels, with gender-specific differences noted in GL-3 substrate activity and eGFR. Overall, it improved cardiac and renal outcomes similarly to enzyme replacement therapy, with a comparable safety profile.