TY  - JOUR
A1  - Schnurbein, Julia von
A1  - Adams, Claire
A1  - Akinci, Baris
A1  - Ceccarini, Giovanni
A1  - D'Apice, Maria Rosaria
A1  - Gambineri, Alessandra
A1  - Hennekam, Raoul C.
A1  - Jeru, Isabelle
A1  - Lattanzi, Giovanna
A1  - Miehle, Konstanze
A1  - Nagel, Gabriele
A1  - Novelli, Giuseppe
A1  - Santini, Ferruccio
A1  - Santos Silva, Ermelinda
A1  - Savage, David B.
A1  - Sbraccia, Paolo
A1  - Schaaf, Jannik
A1  - Sorkina, Ekaterina
A1  - Tanteles, George
A1  - Vantyghem, Marie-Christine
A1  - Vatier, Camille
A1  - Vigouroux, Corinne
A1  - Vorona, Elena
A1  - Araújo-Vilar, David
A1  - Wabitsch, Martin
T1  - European lipodystrophy registry: background and structure
T2  - Orphanet journal of rare diseases
N2  - 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.
KW  - Lipodystrophy
KW  - Registry
KW  - Rare diseases
KW  - Adipose tissue
Y1  - 2020
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/52994
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-529948
SN  - 1750-1172
N1  - Open Access: This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
VL  - 15
IS  - 1, Art. 17
SP  - 1
EP  - 11
PB  - BioMed Central
CY  - London
ER  -