RT Journal Article
T1 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.
A1 Sampayo-Cordero, Miguel
A1 Miguel-Huguet, Bernat
A1 Pardo-Mateos, Almudena
A1 Malfettone, Andrea
A1 Pérez-García, José
A1 Llombart-Cussac, Antonio
A1 Cortés, Javier
A1 Moltó-Abad, Marc
A1 Muñoz-Delgado, Cecilia
A1 Pérez-Quintana, Marta
A1 Pérez-López, Jordi
K1 Case reports
K1 Clinical studies
K1 Enzyme replacement therapy
K1 Evidence-based medicine
K1 Meta-analysis
K1 Mucopolysaccharidosis type II
K1 Systematic review
AB 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). 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. 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. 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.
YR 2019
FD 2019-10-21
LK http://hdl.handle.net/10668/15167
UL http://hdl.handle.net/10668/15167
LA en
DS RISalud
RD Apr 5, 2025