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dc.contributor.authorvon Schnurbein, Julia
dc.contributor.authorAdams, Claire
dc.contributor.authorAkinci, Baris
dc.contributor.authorCeccarini, Giovanni
dc.contributor.authorD’Apice, Maria Rosaria
dc.contributor.authorGambineri, Alessandra
dc.contributor.authorHennekam, Raoul C. M.
dc.contributor.authorJeru, Isabelle
dc.contributor.authorLattanzi, Giovanna
dc.contributor.authorMiehle, Konstanze
dc.contributor.authorNagel, Gabriele
dc.contributor.authorNovelli, Giuseppe
dc.contributor.authorSantini, Ferruccio
dc.contributor.authorSantos Silva, Ermelinda
dc.contributor.authorSavage, David B.
dc.contributor.authorSbraccia, Paolo
dc.contributor.authorSchaaf, Jannik
dc.contributor.authorSorkina, Ekaterina
dc.contributor.authorTanteles, George
dc.contributor.authorVantyghem, Marie-Christine
dc.contributor.authorVatier, Camille
dc.contributor.authorVigouroux, Corinne
dc.contributor.authorVorona, Elena
dc.contributor.authorAraújo-Vilar, David
dc.contributor.authorWabitsch, Martin
dc.date.accessioned2021-01-14T16:19:58Z
dc.date.available2021-01-14T16:19:58Z
dc.date.issued2020-01-15
dc.date.submitted2019-07-08
dc.identifier.others13023-020-1295-y
dc.identifier.other1295
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/316188
dc.description.abstractAbstract: 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.
dc.languageen
dc.publisherBioMed Central
dc.rightsAttribution 4.0 International (CC BY 4.0)en
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en
dc.subjectResearch
dc.subjectRare endocrinological diseases
dc.subjectLipodystrophy
dc.subjectRegistry
dc.subjectRare diseases
dc.subjectAdipose tissue
dc.titleEuropean lipodystrophy registry: background and structure
dc.typeArticle
dc.date.updated2021-01-14T16:19:57Z
prism.issueIdentifier1
prism.publicationNameOrphanet Journal of Rare Diseases
prism.volume15
dc.identifier.doi10.17863/CAM.63296
dcterms.dateAccepted2020-01-05
rioxxterms.versionofrecord10.1186/s13023-020-1295-y
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidvon Schnurbein, Julia [0000-0001-9918-664X]
dc.identifier.eissn1750-1172
pubs.funder-project-idRussian Science Foundation (17-75-30035)
pubs.funder-project-idFrench Ministry of Solidarity and Health, Assistance-Publique Hopitaux de Paris, Sorbonne Universite, Inserm and CardioMetabolism and Nutrition University Hospital Institute, France (ANR-10-IAHU)
pubs.funder-project-idFrench Ministry of Solidarity and Health, Assitance-Publique Hopiteaux de Paris, Sorbonne Université, Inserm and CardioMetabolism and Nutrition University Hospital Institute France (ANR-10-IAHU)
pubs.funder-project-idWellcome Trust (WT 107064)
pubs.funder-project-idMRC Metabolic Disease Unit (MRC-MC-UU_12012/2)
pubs.funder-project-idInstituto de Salud Carlos III and the European Regional Development Fund (PI18/01890)
pubs.funder-project-idConselleria de Industria, Xunta de Galicia (ED341b 2017/19)
pubs.funder-project-idFundación Mutua Madrilena (Call 2015)
pubs.funder-project-idUCIBIO (UID/MULTI/04378/2019)


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Attribution 4.0 International (CC BY 4.0)
Except where otherwise noted, this item's licence is described as Attribution 4.0 International (CC BY 4.0)