European lipodystrophy registry: background and structure
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(2020) 15:17
RESEARCH
Open Access
European lipodystrophy registry: background and structure Julia von Schnurbein1 , Claire Adams2, Baris Akinci3, Giovanni Ceccarini4, Maria Rosaria D’Apice5, Alessandra Gambineri6, Raoul C. M. Hennekam7, Isabelle Jeru8, Giovanna Lattanzi9, Konstanze Miehle10, Gabriele Nagel11, Giuseppe Novelli12,13, Ferruccio Santini4, Ermelinda Santos Silva14,15,16, David B. Savage2, Paolo Sbraccia17, Jannik Schaaf18, Ekaterina Sorkina19, George Tanteles20, Marie-Christine Vantyghem21, Camille Vatier8, Corinne Vigouroux8, Elena Vorona22, David Araújo-Vilar23* and Martin Wabitsch1*
Abstract Background: Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodystrophy subform, research in this area is difficult and international co-operation mandatory. Therefore, in 2016, the European Consortium of Lipodystrophies (ECLip) decided to create a registry for patients with lipodystrophy. Results: The registry was build using the information technology Open Source Registry System for Rare Diseases in the EU (OSSE), an open-source software and toolbox. Lipodystrophy specific data forms were developed based on current knowledge of typical signs and symptoms of lipodystrophy. The platform complies with the new General Data Protection Regulation (EU) 2016/679 by ensuring patient pseudonymization, informational separation of powers, secure data storage and security of communication, user authentication, person specific access to data, and recording of access granted to any data. Inclusion criteria are all patients with any form of lipodystrophy (with the exception of HIV-associated lipodystrophy). So far 246 patients from nine centres (Amsterdam, Bologna, Izmir, Leipzig, Münster, Moscow, Pisa, Santiago de Compostela, Ulm) have been recruited. With the help from the six centres on the brink of recruitment (Cambridge, Lille, Nicosia, Paris, Porto, Rome) this number is expected to double within the next one or 2 years. Conclusions: A European registry for all patients with lipodystrophy will provide a platform for improved research in the area of lipodystrophy. All physicians from Europe and neighbouring countries caring for patients with lipodystrophy are invited to participate in the ECLip Registry. Study registration: ClinicalTrials.gov (NCT03553420). Registered 14 March 2018, retrospectively registered. Keywords: Lipodystrophy, Registry, Rare diseases, Adipose tissue
* Correspondence: [email protected]; [email protected] David Araújo-Vilar and Martin Wabitsch: Shared last author and corresponding authorship. Julia von Schnurbein, Giovanni Ceccarini, Gabriele Nagel, David B Savage, Ekaterina Sorkina, Marie-Christine Vantyghem, Camille Vatier, David AraújoVilar and Martin Wabitsch: ECLip Registry board member. 23 Thyroid and Metabolic Diseases Unit, Centro de Investigación en Medicina Molecular y Enfermedades Crónic
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