European lipodystrophy registry: background and structure

Orphanet Journal of Rare Diseases

Marie-Christine Vantyghem¹  Giovanna Lattanzi²  George Tanteles³  Giuseppe Novelli⁴  Raoul C. M. Hennekam⁵  Elena Vorona⁶  Julia von Schnurbein⁷  Martin Wabitsch⁷  Baris Akinci⁸  Ekaterina Sorkina⁹  Alessandra Gambineri^1,10  Corinne Vigouroux^1,11  Camille Vatier^1,11  Isabelle Jeru^1,11  Gabriele Nagel^1,12  Paolo Sbraccia^1,13  Konstanze Miehle^1,14  Maria Rosaria D’Apice^1,15  Jannik Schaaf^1,16  Giovanni Ceccarini^1,17  Ferruccio Santini^1,17  Ermelinda Santos Silva^1,18  David Araújo-Vilar^1,19  David B. Savage^2,20  Claire Adams^2,20 

[1] CHU Lille, Department of Endocrinology, Diabetology and Metabolism, Inserm, Translational Research for Diabetes, UMR-1190, European Genomic Institute for Diabetes, University of Lille;CNR Institute of Molecular Genetics “Luigi Luca Cavalli-Sforza”, Unit of Bologna;Clinical Genetics Clinic, Cyprus Institute of Neurology & Genetics;Department of Biomedicine and Prevention, University of Rome Tor Vergata - Policlinico Tor Vergata;Department of Paediatrics, Amsterdam University Medical Centre;Division of Endocrinology, Diabetology and Nutritional Medicine, Department of Medicine B of Gastroenterology and Hepatology, University Clinics of Münster;Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, Centre for Rare Endocrine Disorders, Ulm University Medical Centre;Dokuz Eylul University School of Medicine;Endocrinology Research Centre;Endocrinology Unit, Department of Clinical and Medical Science, S. Orsola-Malpighi Hospital, University of Bologna;Inserm U938, AP-HP, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Departments of Endocrinology, Diabetology and Reproductive Endocrinology, and Molecular Biology and Genetics, Sorbonne University, Saint-Antoine University Hospital;Institute of Epidemiology and Medical Biometry, Ulm University;Internal Medicine Unit and Obesity Center, Department of Systems Medicine, University of Rome Tor Vergata;Medical Department III – Endocrinology, Nephrology, Rheumatology, University of Leipzig;Medical Genetics Laboratory, Policlinico Tor Vergata;Medical Informatics Group, University Hospital Frankfurt;Obesity and Lipodystrophy Center, Endocrine Unit, University Hospital of Pisa;Pediatric Gastroenterology Unit, Pediatrics Division, Centro Materno Infantil do Norte (CMIN), Centro Hospitalar Universitário do Porto;Thyroid and Metabolic Diseases Unit, Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS)-IDIS, School of Medicine, Universidade de Santiago de Compostela;University of Cambridge Metabolic Research Laboratories;

关键词: Lipodystrophy;    Registry;    Rare diseases;    Adipose tissue;   

DOI  :  10.1186/s13023-020-1295-y

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown