European lipodystrophy registry: background and structure.
Adipose tissue
Lipodystrophy
Rare diseases
Registry
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
15 01 2020
15 01 2020
Historique:
received:
08
07
2019
accepted:
05
01
2020
entrez:
17
1
2020
pubmed:
17
1
2020
medline:
2
2
2021
Statut:
epublish
Résumé
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.
Sections du résumé
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.
Identifiants
pubmed: 31941540
doi: 10.1186/s13023-020-1295-y
pii: 10.1186/s13023-020-1295-y
pmc: PMC6964101
doi:
Banques de données
ClinicalTrials.gov
['NCT03553420']
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
17Subventions
Organisme : Wellcome Trust
ID : WT 107064
Pays : United Kingdom
Organisme : Medical Research Council
ID : MRC-MC-UU_12012/2
Pays : United Kingdom
Références
EMBO Mol Med. 2009 Aug;1(5):280-7
pubmed: 20049731
BMC Med Inform Decis Mak. 2015 Feb 07;15:2
pubmed: 25656224
J Clin Endocrinol Metab. 2007 May;92(5):1606-12
pubmed: 17299075
Diabetes Metab Syndr Obes. 2017 Sep 13;10:375-383
pubmed: 29066925
Clin Endocrinol (Oxf). 2016 Jan;84(1):141-8
pubmed: 26119484
J Clin Endocrinol Metab. 2019 Dec 1;104(12):6025-6032
pubmed: 31504636
J Endocrinol Invest. 2019 Jan;42(1):61-73
pubmed: 29704234
Eur J Endocrinol. 2019 Jan 1;180(1):89-98
pubmed: 30407922
J Clin Endocrinol Metab. 2016 Dec;101(12):4500-4511
pubmed: 27710244
Public Health Genomics. 2016;19(2):108-15
pubmed: 26998603
J Clin Endocrinol Metab. 2011 Nov;96(11):3313-25
pubmed: 21865368
Stud Health Technol Inform. 2018;253:209-213
pubmed: 30147075
N Engl J Med. 2004 Mar 18;350(12):1220-34
pubmed: 15028826
J Clin Endocrinol Metab. 2008 Apr;93(4):1129-34
pubmed: 18211975