title: The Quality of Rare Disease Registries: Evaluation and Characterization.
abstract: The focus on the quality of the procedures for data collection, storing, and analysis in the definition and implementation of a rare disease registry (RDR) is the basis for developing a valid and long-term sustainable tool. The aim of this study was to provide useful information for characterizing a quality profile for RDRs using an analytical approach applied to RDRs participating in the European Platform for Rare Disease Registries 2011-2014 (EPIRARE) survey.
  
  
  
  An indicator of quality was defined by choosing a small set of quality-related variables derived from the survey. The random forest method was used to identify the variables best defining a quality profile for RDRs. Fisher's exact test was employed to assess the association with the indicator of quality, and the Cochran-Armitage test was used to check the presence of a linear trend along different levels of quality.
  
  
  
  The set of variables found to characterize high-quality RDRs focused on ethical and legal issues, governance, communication of activities and results, established procedures to regulate access to data and security, and established plans to ensure long-term sustainability.
  
  
  
  The quality of RDRs is usually associated with a good oversight and governance mechanism and with durable funding. The results suggest that RDRs would benefit from support in management, information technology, epidemiology, and statistics.
authors.affiliation: Institute of Clinical Physiology, National Research Council, Pisa, Italy.
authors.forename: Alessio
authors.initials: A
authors.lastname: Coi
authors.forename: Michele
authors.initials: M
authors.lastname: Santoro
authors.forename: Ana
authors.initials: A
authors.lastname: Villaverde-Hueso
authors.forename: Michele
authors.initials: M
authors.lastname: Lipucci Di Paola
authors.forename: Sabina
authors.initials: S
authors.lastname: Gainotti
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
authors.forename: Manuel
authors.initials: M
authors.lastname: Posada de la Paz
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Bianchi
mesh_terms: D019468:Disease Management; D005060:Europe; D006801:Humans; D058996:Quality Improvement; D035583:Rare Diseases / Q000453:epidemiology; D012042:Registries / Q000592:standards* / Q000706:statistics & numerical data