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 Sampayo-Cordero, Bernat Miguel-Huguet, Andrea Malfettone, José Manuel Pérez-García, Antonio Llombart-Cussac, Javier Cortés, Almudena Pardo and Jordi Pérez-López
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Miguel Sampayo-Cordero: Medica Scientia Innovation Research (MedSIR), Ridgewood, NJ 07450, USA
Bernat Miguel-Huguet: Department of Surgery, Hospital de Bellvitge, L’Hospitalet de Llobregat, 08907 Barcelona, Spain
Andrea Malfettone: Medica Scientia Innovation Research (MedSIR), Ridgewood, NJ 07450, USA
José Manuel Pérez-García: Medica Scientia Innovation Research (MedSIR), Ridgewood, NJ 07450, USA
Antonio Llombart-Cussac: Medica Scientia Innovation Research (MedSIR), Ridgewood, NJ 07450, USA
Javier Cortés: Medica Scientia Innovation Research (MedSIR), Ridgewood, NJ 07450, USA
Almudena Pardo: Albiotech Consultores y Redacción Científica S.L., 28035 Madrid, Spain
Jordi Pérez-López: Department of Internal Medicine, Hospital Vall d’Hebron, 08035 Barcelona, Spain

IJERPH, 2020, vol. 17, issue 18, 1-16

Abstract: 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.

Keywords: systematic review; meta-analysis; randomized clinical trial; nonrandomized study; case report; mucopolysaccharidosis; enzyme replacement therapy; rare disease; clinical studies (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2020
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