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European lipodystrophy registry: background and structure

2020Journal article Open access
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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.accessioned2022-06-30T11:37:47Z
dc.date.available2022-06-30T11:37:47Z
dc.date.issued2020
dc.descriptionClinicalTrials.gov (NCT03553420). Registered 14 March 2018, retrospectively registeredpt_PT
dc.description.abstractBackground: 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.pt_PT
dc.description.sponsorshipE.S. has funding for lipodystrophy studies by the Russian Science Foundation,grantNo17–75-30035C.Vi. and C.Va. received funding by the French Ministry of Solidarity andHealth, Assistance-Publique Hôpitaux de Paris, Sorbonne Université, the Insti-tut National de la Santé et de la Recherche Médicale (Inserm), and CardioMe-tabolism and Nutrition University Hospital Institute (ICAN), grant ANR-10-IAHU, FranceD.B.S. is supported by the Wellcome Trust (WT 107064), the MRC MetabolicDisease Unit (MRC_MC_UU_12012/2), and The National Institute for HealthResearch (NIHR) Cambridge Biomedical Research Centre and NIHR RareDisease Translational Research Collaboration.D.A.-V. received funding by the Instituto de Salud Carlos III and the EuropeanRegional Development Fund, FEDER (grant number PI18/01890), by theConsellería de Industria, Xunta de Galicia (grant number ED341b 2017/19),and by Fundación Mutua Madrileña (Call 2015).E.S.-S. work was supported by Applied Molecular Biosciences Unit (UCIBIO),which is financed by national funds from FCT/MCTES (UID/MULTI/04378/2019).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationvon Schnurbein J, Adams C, Akinci B, et al. European lipodystrophy registry: background and structure. Orphanet J Rare Dis. 2020;15(1):17. doi:10.1186/s13023-020-1295-ypt_PT
dc.identifier.doi10.1186/s13023-020-1295-ypt_PT
dc.identifier.issn1750-1172
dc.identifier.urihttp://hdl.handle.net/10400.16/2690
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBioMed Centralpt_PT
dc.relationApplied Molecular Biosciences Unit
dc.relation.publisherversionhttps://ojrd.biomedcentral.com/articles/10.1186/s13023-020-1295-ypt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectAdipose tissuept_PT
dc.subjectLipodystrophypt_PT
dc.subjectRare diseasespt_PT
dc.subjectRegistrypt_PT
dc.titleEuropean lipodystrophy registry: background and structurept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleApplied Molecular Biosciences Unit
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UID%2FMulti%2F04378%2F2019/PT
oaire.citation.conferencePlaceEnglandpt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage17pt_PT
oaire.citation.titleOrphanet Journal of Rare Diseasespt_PT
oaire.citation.volume15pt_PT
oaire.fundingStream6817 - DCRRNI ID
person.familyNameSantos Silva
person.givenNameErmelinda
person.identifier702094
person.identifier.ciencia-id7010-0876-5066
person.identifier.orcid0000-0002-0987-341X
person.identifier.ridT-2673-2018
person.identifier.scopus-author-id56367330200
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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relation.isProjectOfPublication88e21611-38ae-43a2-ae3d-bd4a1d4186de
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