BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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: Yaffa R Rubinstein; Peter N Robinson; William A Gahl; Paul Avillach; Gareth Baynam; Helene Cederroth; Rebecca M Goodwin; Stephen C Groft; Mats G Hansson; Nomi L Harris; Vojtech Huser; Deborah Mascalzoni; Julie A McMurry; Matthew Might; Christoffer Nellaker; Barend Mons; Dina N Paltoo; Jonathan Pevsner; Manuel Posada; Alison P Rockett-Frase; Marco Roos; Tamar B Rubinstein; Domenica Taruscio; Esther van Enckevort; Melissa A Haendel Journal: JAMIA Open Date: 2020-09-11
Authors: S R Ali; J Bryce; M Cools; M Korbonits; J G Beun; D Taruscio; T Danne; M Dattani; O M Dekkers; A Linglart; I Netchine; A Nordenstrom; A Patocs; L Persani; N Reisch; A Smyth; Z Sumnik; W E Visser; O Hiort; A M Pereira; S F Ahmed Journal: Eur J Endocrinol Date: 2019-01-01 Impact factor: 6.664
Authors: Salma R Ali; Jillian Bryce; Li En Tan; Olaf Hiort; Alberto M Pereira; Erica L T van den Akker; Natasha M Appelman-Dijkstra; Jerome Bertherat; Martine Cools; Olaf M Dekkers; Yllka Kodra; Luca Persani; Arelene Smyth; Christopher Smythe; Domenica Taruscio; S Faisal Ahmed Journal: Int J Environ Res Public Health Date: 2020-11-25 Impact factor: 3.390
Authors: Yllka Kodra; Jérôme Weinbach; Manuel Posada-de-la-Paz; Alessio Coi; S Lydie Lemonnier; David van Enckevort; Marco Roos; Annika Jacobsen; Ronald Cornet; S Faisal Ahmed; Virginie Bros-Facer; Veronica Popa; Marieke Van Meel; Daniel Renault; Rainald von Gizycki; Michele Santoro; Paul Landais; Paola Torreri; Claudio Carta; Deborah Mascalzoni; Sabina Gainotti; Estrella Lopez; Anna Ambrosini; Heimo Müller; Robert Reis; Fabrizio Bianchi; Yaffa R Rubinstein; Hanns Lochmüller; Domenica Taruscio Journal: Int J Environ Res Public Health Date: 2018-08-03 Impact factor: 3.390
Authors: Julia von Schnurbein; Claire Adams; Baris Akinci; Giovanni Ceccarini; Maria Rosaria D'Apice; Alessandra Gambineri; Raoul C M Hennekam; Isabelle Jeru; Giovanna Lattanzi; Konstanze Miehle; Gabriele Nagel; Giuseppe Novelli; Ferruccio Santini; Ermelinda Santos Silva; David B Savage; Paolo Sbraccia; Jannik Schaaf; Ekaterina Sorkina; George Tanteles; Marie-Christine Vantyghem; Camille Vatier; Corinne Vigouroux; Elena Vorona; David Araújo-Vilar; Martin Wabitsch Journal: Orphanet J Rare Dis Date: 2020-01-15 Impact factor: 4.123