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oai:recercat.cat:11351/62492024-12-13T11:05:21Zcom_2072_378070com_2072_378040col_2072_378092

2023-11-08T10:20:16Z urn:hdl:11351/6249 The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II) Miguel-Huguet, Bernat Perez-Garcia, Jose Manuel Llombart-Cussac, Antonio Cortés Castan, Javier Pérez López, Jorge Sampayo-Cordero, Miguel Malfettone, Andrea Malalties rares Malalties congènites Enzims - Ús terapèutic ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Drug Therapy::Enzyme Therapy::Enzyme Replacement Therapy DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Genetic Diseases, X-Linked::Mental Retardation, X-Linked::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Mucopolysaccharidosis II DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::farmacoterapia::terapia enzimática::tratamiento de sustitución enzimática ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades genéticas ligadas al cromosoma X::retraso mental ligado al cromosoma X::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::mucopolisacaridosis II ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras Informe de un caso; Enfermedad rara; Revisión sistemática Informe d'un cas; Malaltia rara; Revisió sistemàtica Case report; Rare disease; Systematic review Background: Case reports are usually excluded from systematic reviews. Patients with rare diseases are more dependent on novel individualized strategies than patients with common diseases. We reviewed and summarized the novelties reported by case reports in mucopolysaccharidosis type II (MPS-II) patients treated with enzyme replacement therapy (ERT). Methods: We selected the case reports included in a previous meta-analysis of patients with MPS-II treated with ERT. Later clinical studies evaluating the same topic of those case reports were reported. Our primary aim was to summarize novelties reported in previous case reports. Secondary objectives analyzed the number of novelties evaluated in subsequent clinical studies and the time elapsed between the publication of the case report to the publication of the clinical study. Results: We identified 11 innovative proposals in case reports that had not been previously considered in clinical studies. Only two (18.2%) were analyzed in subsequent nonrandomized cohort studies. The other nine novelties (81.8%) were analyzed in later case reports (five) or were not included in ulterior studies (four) after more than five years from their first publication. Conclusions: Case reports should be included in systematic reviews of rare disease to obtain a comprehensive summary of the state of research and offer valuable information for healthcare practitioners. This research received no external funding. 2023-11-08T10:20:16Z 2023-11-08T10:20:16Z 2021-09-01T10:44:29Z 2021-09-01T10:44:29Z 2020-09-10 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://hdl.handle.net/11351/6249 International Journal Of Environmental Research And Public Health;17(18) https://www.mdpi.com/1660-4601/17/18/6590 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess MDPI Scientia