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European lipodystrophy registry: background and structure

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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6964101/
https://www.ncbi.nlm.nih.gov/pubmed/31941540
http://dx.doi.org/10.1186/s13023-020-1295-y
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author 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
author_facet 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
author_sort von Schnurbein, Julia
collection PubMed
description 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.
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spelling pubmed-69641012020-01-22 European lipodystrophy registry: background and structure 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 Orphanet J Rare Dis Research 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. BioMed Central 2020-01-15 /pmc/articles/PMC6964101/ /pubmed/31941540 http://dx.doi.org/10.1186/s13023-020-1295-y Text en © The Author(s). 2020 Open AccessThis 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.
spellingShingle Research
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
European lipodystrophy registry: background and structure
title European lipodystrophy registry: background and structure
title_full European lipodystrophy registry: background and structure
title_fullStr European lipodystrophy registry: background and structure
title_full_unstemmed European lipodystrophy registry: background and structure
title_short European lipodystrophy registry: background and structure
title_sort european lipodystrophy registry: background and structure
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6964101/
https://www.ncbi.nlm.nih.gov/pubmed/31941540
http://dx.doi.org/10.1186/s13023-020-1295-y
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