当前位置:
X-MOL 学术
›
Orphanet J. Rare Dis.
›
论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases.
Orphanet Journal of Rare Diseases ( IF 3.7 ) Pub Date : 2019-10-21 , DOI: 10.1186/s13023-019-1202-6 Miguel Sampayo-Cordero 1 , Bernat Miguel-Huguet 2 , Almudena Pardo-Mateos 3 , Andrea Malfettone 1 , José Pérez-García 1, 4 , Antonio Llombart-Cussac 1, 5 , Javier Cortés 1, 4 , Marc Moltó-Abad 6 , Cecilia Muñoz-Delgado 7 , Marta Pérez-Quintana 8 , Jordi Pérez-López 6
Orphanet Journal of Rare Diseases ( IF 3.7 ) Pub Date : 2019-10-21 , DOI: 10.1186/s13023-019-1202-6 Miguel Sampayo-Cordero 1 , Bernat Miguel-Huguet 2 , Almudena Pardo-Mateos 3 , Andrea Malfettone 1 , José Pérez-García 1, 4 , Antonio Llombart-Cussac 1, 5 , Javier Cortés 1, 4 , Marc Moltó-Abad 6 , Cecilia Muñoz-Delgado 7 , Marta Pérez-Quintana 8 , Jordi Pérez-López 6
Affiliation
BACKGROUND
A preliminary exploratory study shows solid agreement between the results of case reports and clinical study meta-analyses in mucopolysaccharidosis Type I (MPS-I) adult patients. The aim of the present study is to confirm previous results in another patient population, suffering from mucopolysaccharidosis Type II (MPS-II).
METHODS
A systematic review and meta-analysis of case reports published by April 2018 was conducted for MPS-II patients treated with enzyme replacement therapy (ERT). The study is reported in accordance with PRISMA and MOOSE guidelines (PROSPERO database code CRD42018093408). The assessed population and outcomes were the same as previously analyzed in a meta-analysis of MPS-II clinical studies. The primary endpoint was the percent of clinical cases showing improvement in efficacy outcome, or no harm in safety outcome after ERT initiation. A restrictive procedure to aggregate case reports, by selecting standardized and well-defined outcomes, was proposed. Different sensitivity analyses were able to evaluate the robustness of results.
RESULTS
Every outcome classified as "acceptable evidence group" in our case report meta-analysis had been graded as "moderate strength of evidence" in the aforementioned meta-analysis of clinical studies. Sensitivity, specificity, and positive-negative predictive values for results of both meta-analyses reached 100%, and were deemed equivalent.
CONCLUSIONS
Aggregating case reports quantitatively, rather than analyzing them qualitatively, may improve conclusions in rare diseases and personalized medicine. Additionally, we propose some methods to evaluate publication bias and heterogeneity of the included studies in a meta-analysis of case reports.
中文翻译:
病例报告和临床研究的荟萃分析结果关于艾杜糖酶治疗II型粘多糖贮积病(MPS-II)的有效性和安全性之间的一致性。罕见疾病中循证医学的新工具。
背景技术初步的探索性研究显示,I型粘多糖贮积症(MPS-1)成年患者的病例报告结果与临床研究荟萃分析之间具有坚实的一致性。本研究的目的是证实另一位患有II型粘多糖贮积病(MPS-II)的患者的先前结果。方法对2018年4月发布的MPS-II接受酶替代疗法(ERT)治疗的病例进行系统回顾和荟萃分析。根据PRISMA和MOOSE指南(PROSPERO数据库代码CRD42018093408)报告了该研究。评估的人群和结局与之前在MPS-II临床研究的荟萃分析中分析的人群和结局相同。主要终点是显示临床疗效改善的临床病例百分比,或在启动ERT后不会对安全结果造成损害。提出了一种限制性的程序,可以通过选择标准化和定义明确的结果来汇总病例报告。不同的敏感性分析能够评估结果的稳健性。结果在我们的病例报告荟萃分析中,每个分类为“可接受证据组”的结果在上述临床研究的荟萃分析中均被评为“中等证据强度”。两项荟萃分析结果的敏感性,特异性和阳性/阴性预测值均达到100%,并被认为是等效的。结论定量汇总病例报告,而不是定性分析,可能会改善罕见病和个性化医学的结论。此外,
更新日期:2019-10-21
中文翻译:
病例报告和临床研究的荟萃分析结果关于艾杜糖酶治疗II型粘多糖贮积病(MPS-II)的有效性和安全性之间的一致性。罕见疾病中循证医学的新工具。
背景技术初步的探索性研究显示,I型粘多糖贮积症(MPS-1)成年患者的病例报告结果与临床研究荟萃分析之间具有坚实的一致性。本研究的目的是证实另一位患有II型粘多糖贮积病(MPS-II)的患者的先前结果。方法对2018年4月发布的MPS-II接受酶替代疗法(ERT)治疗的病例进行系统回顾和荟萃分析。根据PRISMA和MOOSE指南(PROSPERO数据库代码CRD42018093408)报告了该研究。评估的人群和结局与之前在MPS-II临床研究的荟萃分析中分析的人群和结局相同。主要终点是显示临床疗效改善的临床病例百分比,或在启动ERT后不会对安全结果造成损害。提出了一种限制性的程序,可以通过选择标准化和定义明确的结果来汇总病例报告。不同的敏感性分析能够评估结果的稳健性。结果在我们的病例报告荟萃分析中,每个分类为“可接受证据组”的结果在上述临床研究的荟萃分析中均被评为“中等证据强度”。两项荟萃分析结果的敏感性,特异性和阳性/阴性预测值均达到100%,并被认为是等效的。结论定量汇总病例报告,而不是定性分析,可能会改善罕见病和个性化医学的结论。此外,