BACKGROUND: The current situation of rare disease (RD) registries is rather heterogeneous, and new ways to support the registration of RD patients are being sought in the European Union (EU) and the US. The project 'Building Consensus and Synergies for the EU Registration of RD Patients', funded by the EU, aimed to define a model platform for EU RD registries. METHODS: A number of surveys and extensive consultations among registry stakeholders have been carried out to study how the platform can best fulfill their needs. RESULTS: This web-based, multidisease and multipurpose platform is intended to provide a number of functions: a metadata and data repository function supporting the planning of research studies and the production of predefined outputs for the funding organizations and the public, provision of tools and resources of use to registries, promotion of registration and networking among patients and professionals. CONCLUSION: Its main impact is expected to be on data and procedures standardization, on the establishment of new registries, on the sustainability of the smaller ones, and on the registration of those RDs for which a dedicated registry is not sustainable, e.g. ultra-rare diseases or diseases for which there is no special research, clinical or economic interest. It will also impact on the production of sounder information on RD and RD-dedicated health systems, by promoting registry data comparability and quality.
BACKGROUND: The current situation of rare disease (RD) registries is rather heterogeneous, and new ways to support the registration of RD patients are being sought in the European Union (EU) and the US. The project 'Building Consensus and Synergies for the EU Registration of RD Patients', funded by the EU, aimed to define a model platform for EU RD registries. METHODS: A number of surveys and extensive consultations among registry stakeholders have been carried out to study how the platform can best fulfill their needs. RESULTS: This web-based, multidisease and multipurpose platform is intended to provide a number of functions: a metadata and data repository function supporting the planning of research studies and the production of predefined outputs for the funding organizations and the public, provision of tools and resources of use to registries, promotion of registration and networking among patients and professionals. CONCLUSION: Its main impact is expected to be on data and procedures standardization, on the establishment of new registries, on the sustainability of the smaller ones, and on the registration of those RDs for which a dedicated registry is not sustainable, e.g. ultra-rare diseases or diseases for which there is no special research, clinical or economic interest. It will also impact on the production of sounder information on RD and RD-dedicated health systems, by promoting registry data comparability and quality.
Authors: Domenica Taruscio; Emanuela Mollo; Sabina Gainotti; Manuel Posada de la Paz; Fabrizio Bianchi; Luciano Vittozzi Journal: Arch Public Health Date: 2014-10-13
Authors: Lisa Friedlander; Rémy Choquet; Eva Galliani; Myriam de Chalendar; Claude Messiaen; Amélie Ruel; Marie-Paule Vazquez; Ariane Berdal; Corinne Alberti; Muriel De La Dure Molla Journal: Orphanet J Rare Dis Date: 2017-05-19 Impact factor: 4.123
Authors: Daphne H Schoenmakers; Shanice Beerepoot; Sibren van den Berg; Laura Adang; Annette Bley; Jaap-Jan Boelens; Francesca Fumagalli; Wim G Goettsch; Sabine Grønborg; Samuel Groeschel; Peter M van Hasselt; Carla E M Hollak; Caroline Lindemans; Fanny Mochel; Peter G M Mol; Caroline Sevin; Ayelet Zerem; Ludger Schöls; Nicole I Wolf Journal: Orphanet J Rare Dis Date: 2022-02-14 Impact factor: 4.123
Authors: Carla Gaggiano; Antonio Vitale; Abdurrahman Tufan; Gaafar Ragab; Emma Aragona; Ewa Wiesik-Szewczyk; Djouher Ait-Idir; Giovanni Conti; Ludovica Iezzi; Maria Cristina Maggio; Marco Cattalini; Francesco La Torre; Giuseppe Lopalco; Elena Verrecchia; Amato de Paulis; Ali Sahin; Antonella Insalaco; Petros P Sfikakis; Achille Marino; Micol Frassi; Benson Ogunjimi; Daniela Opris-Belinski; Paola Parronchi; Giacomo Emmi; Farhad Shahram; Francesco Ciccia; Matteo Piga; José Hernández-Rodríguez; Rosa Maria R Pereira; Maria Alessio; Roberta Naddei; Alma Nunzia Olivieri; Emanuela Del Giudice; Paolo Sfriso; Piero Ruscitti; Francesca Li Gobbi; Hamit Kucuk; Jurgen Sota; Mohamed A Hussein; Giuseppe Malizia; Karina Jahnz-Różyk; Rawda Sari-Hamidou; Mery Romeo; Francesca Ricci; Fabio Cardinale; Florenzo Iannone; Francesca Della Casa; Marco Francesco Natale; Katerina Laskari; Teresa Giani; Franco Franceschini; Vito Sabato; Derya Yildirim; Valeria Caggiano; Mohamed Tharwat Hegazy; Rosalba Di Marzo; Aleksandra Kucharczyk; Ghalia Khellaf; Maria Tarsia; Ibrahim A Almaghlouth; Ahmed Hatem Laymouna; Violetta Mastrorilli; Laura Dotta; Luca Benacquista; Salvatore Grosso; Francesca Crisafulli; Veronica Parretti; Heitor F Giordano; Ayman Abdel-Monem Ahmed Mahmoud; Rossana Nuzzolese; Marta De Musso; Cecilia Beatrice Chighizola; Stefano Gentileschi; Mirella Morrone; Ilenia Di Cola; Veronica Spedicato; Henrique A Mayrink Giardini; Ibrahim Vasi; Alessandra Renieri; Alessandra Fabbiani; Maria Antonietta Mencarelli; Bruno Frediani; Alberto Balistreri; Gian Marco Tosi; Claudia Fabiani; Merav Lidar; Donato Rigante; Luca Cantarini Journal: Front Med (Lausanne) Date: 2022-09-09