Research article 240 views

European lipodystrophy registry: background and structure.

  • 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

orphanet journal of rare diseases, vol. 15, no. 1, p. 17, 2020

https://doi.org/10.1186/s13023-020-1295-y

Open via DOI

Abstract

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.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.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.ClinicalTrials.gov (NCT03553420). Registered 14 March 2018, retrospectively registered.

Keywords

How to cite

von Schnurbein, Julia; Adams, Claire; Akinci, Baris; Ceccarini, Giovanni; D'Apice, Maria Rosaria; Gambineri, Alessandra; Hennekam, Raoul C M; Jeru, Isabelle; Lattanzi, Giovanna; Miehle, Konstanze; Nagel, Gabriele; Novelli, Giuseppe; Santini, Ferruccio; Santos Silva, Ermelinda; Savage, David B; Sbraccia, Paolo; Schaaf, Jannik; Sorkina, Ekaterina; Tanteles, George; Vantyghem, Marie-Christine; Vatier, Camille; Vigouroux, Corinne; Vorona, Elena; Araújo-Vilar, David; Wabitsch, Martin. (2020). European lipodystrophy registry: background and structure. orphanet journal of rare diseases, 15(1), 17. https://doi.org/10.1186/s13023-020-1295-y

Ref key von-schnurbein2020europeanorphanet

Type this key in a SciMatic manuscript or in Thesis Manager to cite this paper automatically.

References

No references are recorded for this paper yet.