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European lipodystrophy registry: background and structure

Authors
  • von Schnurbein, Julia1
  • Adams, Claire2
  • Akinci, Baris3
  • Ceccarini, Giovanni4
  • D’Apice, Maria Rosaria5
  • Gambineri, Alessandra6
  • Hennekam, Raoul C. M.7
  • Jeru, Isabelle8
  • Lattanzi, Giovanna9
  • Miehle, Konstanze10
  • Nagel, Gabriele11
  • Novelli, Giuseppe12, 13
  • Santini, Ferruccio4
  • Santos Silva, Ermelinda14, 15, 16
  • Savage, David B.2
  • Sbraccia, Paolo17
  • Schaaf, Jannik18
  • Sorkina, Ekaterina19
  • Tanteles, George20
  • Vantyghem, Marie-Christine21
  • And 5 more
  • 1 Ulm University Medical Centre, Eythstraße 24, Ulm, 89075, Germany , Ulm (Germany)
  • 2 University of Cambridge Metabolic Research Laboratories, Cambridge, UK , Cambridge (United Kingdom)
  • 3 Dokuz Eylul University School of Medicine, Izmir, Turkey , Izmir (Turkey)
  • 4 University Hospital of Pisa, Pisa, Italy , Pisa (Italy)
  • 5 Medical Genetics Laboratory, Policlinico Tor Vergata, Rome, Italy , Rome (Italy)
  • 6 University of Bologna, Bologna, Italy , Bologna (Italy)
  • 7 Amsterdam University Medical Centre, Amsterdam, Netherlands , Amsterdam (Netherlands)
  • 8 Sorbonne University, Saint-Antoine University Hospital, Paris, France , Paris (France)
  • 9 CNR Institute of Molecular Genetics “Luigi Luca Cavalli-Sforza”, Unit of Bologna, Bologna, Italy , Bologna (Italy)
  • 10 University of Leipzig, Leipzig, Germany , Leipzig (Germany)
  • 11 Ulm University, Ulm, Germany , Ulm (Germany)
  • 12 University of Rome Tor Vergata - Policlinico Tor Vergata, Rome, Italy , Rome (Italy)
  • 13 Neuromed IRCCS Institute, Pozzilli, IS, Italy , Pozzilli (Italy)
  • 14 Centro Hospitalar Universitário do Porto, Porto, Portugal , Porto (Portugal)
  • 15 Universidade do Porto, Porto, Portugal , Porto (Portugal)
  • 16 UCIBIO, REQUIMTE, Laboratory of Biochemistry, Faculdade de Farmácia do Porto, Porto, Portugal , Porto (Portugal)
  • 17 University of Rome Tor Vergata, Rome, Italy , Rome (Italy)
  • 18 University Hospital Frankfurt, Frankfurt, Germany , Frankfurt (Germany)
  • 19 Endocrinology Research Centre, Moscow, Russia , Moscow (Russia)
  • 20 Cyprus Institute of Neurology & Genetics, Nicosia, 1683, Republic of Cyprus , Nicosia (Cyprus)
  • 21 University of Lille, Lille, 59000, France , Lille (France)
  • 22 University Clinics of Münster, Münster, Germany , Münster (Germany)
  • 23 Universidade de Santiago de Compostela, Avda. Barcelona 3, Santiago de Compostela, 15707, Spain , Santiago de Compostela (Spain)
Type
Published Article
Journal
Orphanet Journal of Rare Diseases
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Jan 15, 2020
Volume
15
Issue
1
Identifiers
DOI: 10.1186/s13023-020-1295-y
Source
Springer Nature
Keywords
License
Green

Abstract

BackgroundLipodystrophy 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.ResultsThe 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.ConclusionsA 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 registrationClinicalTrials.gov (NCT03553420). Registered 14 March 2018, retrospectively registered.

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