Lee Chung-Lin, Chuang Chih-Kuang, Syu Yu-Min, Chiu Huei-Ching, Tu Yuan-Rong, Lo Yun-Ting, Chang Ya-Hui, Lin Hsiang-Yu, Lin Shuan-Pei
Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Institute of Clinical Medicine, National Yang-Ming Chiao-Tung University, Taipei 11221, Taiwan.
J Pers Med. 2022 Aug 20;12(8):1338. doi: 10.3390/jpm12081338.
Mucopolysaccharidosis type IVA (MPS IVA or Morquio A), a lysosomal storage disease with an autosomal recessive inherited pattern, is induced by gene mutations causing deficiency in N-acetylgalactosamine-6-sulfatase activity (GALNS; EC 3.1.6.4). Currently, intravenous (IV) enzyme replacement therapy (ERT) with elosulfase alfa is employed for treating MPS IVA patients. A systematic literature review was conducted to evaluate the efficacy and safety of IV elosulfase alfa for MPS IVA by searching the National Center for Biotechnology Information, U.S. National Library of Medicine National Institutes of Health (PubMed), Excerpta Medica dataBASE, and Cochrane Library databases, limited to clinical trials. Four cohort studies and two randomized controlled trials, with a total of 550 participants (327 on ERT treatment versus 223 on placebo treatment), satisfied the inclusion criteria. Pooled analysis of proportions and confidence intervals were also utilized to systematically review clinical cohort studies and trials. Per the pooled proportions analysis, the difference in means of urinary keratan sulfate (uKS), 6-min walk test, 3-min stair climb test, self-care MPS-Health Assessment Questionnaire, caregiver assistance and mobility, forced vital capacity, the first second of forced expiration, and maximal voluntary ventilation between the ERT and placebo treatment groups were -0.260, -0.102, -0.182, -0.360, -0.408, -0.587, -0.293, -0.311, and -0.213, respectively. Based on the currently available data, our meta-analysis showed that there is uKS, physical performance, quality of life, and respiratory function improvements with ERT in MPS IVA patients. It is optimal to start ERT after diagnosis.
IV型黏多糖贮积症（MPS IVA或Morquio A综合征）是一种常染色体隐性遗传模式的溶酶体贮积病，由基因突变导致N-乙酰半乳糖胺-6-硫酸酯酶（GALNS；EC 3.1.6.4）活性缺乏所致。目前，使用艾洛硫酸酯酶α进行静脉内（IV）酶替代疗法（ERT）来治疗MPS IVA患者。通过检索美国国立医学图书馆国立卫生研究院（PubMed）的生物技术信息中心、医学文摘数据库和Cochrane图书馆数据库（仅限于临床试验），进行了一项系统的文献综述，以评估IV型艾洛硫酸酯酶α治疗MPS IVA的疗效和安全性。四项队列研究和两项随机对照试验，共有550名参与者（327名接受ERT治疗，223名接受安慰剂治疗）符合纳入标准。还利用比例合并分析和置信区间对临床队列研究和试验进行系统综述。根据比例合并分析，ERT治疗组和安慰剂治疗组之间在尿硫酸角质素（uKS）、6分钟步行试验、3分钟爬楼梯试验、自我护理MPS健康评估问卷、护理人员协助和活动能力、用力肺活量、第一秒用力呼气量和最大自主通气量的均值差异分别为-0.260、-0.102、-0.182、-0.360、-0.408、-0.587、-0.293、-0.311和-0.213。基于目前可得的数据，我们的荟萃分析表明，ERT可使MPS IVA患者的uKS、身体机能、生活质量和呼吸功能得到改善。确诊后开始ERT是最佳选择。
