Abstract
BackgroundLipodystrophy 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.ResultsThe 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.ConclusionsA 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 registrationClinicalTrials.gov (NCT03553420). Registered 14 March 2018, retrospectively registered.
Highlights
Lipodystrophy syndromes form a heterogeneous group of diseases characterized by a selective loss of adipose tissue, sometimes associated with fat accumulation in other regions of the body, in the absence of nutritional deprivation or catabolic state [1]
Lipodystrophy syndromes have been traditionally divided into four major categories [2]: congenital generalized lipodystrophy (CGL), familial partial lipodystrophy (FPLD), acquired generalized lipodystrophy (AGL) and acquired partial lipodystrophy (APL)
Aim of the registry The aim of this registry is to enable physicians within and outside of Europe to work together in the field of lipodystrophy and to accumulate sufficient data for sound research in this area. This aim can be achieved by three different approaches within the registry: First, by striving to engage all active centres caring for patients with lipodystrophy in Europe, the registry aims to provide the basis for an improved estimate of the prevalence of lipodystrophy in Europe
Summary
Lipodystrophy syndromes form a heterogeneous group of diseases characterized by a selective loss of adipose tissue, sometimes associated with fat accumulation in other regions of the body, in the absence of nutritional deprivation or catabolic state [1]. Schnurbein et al Orphanet Journal of Rare Diseases (2020) 15:17. 1.1.1 Type 1 CGL (AGPAT2, recessive, OMIM #608594). 1.1.2 Type 2 CGL (BSCL2, recessive, OMIM #269700). 1.1.3 Type 3 CGL (CAV1, recessive, OMIM #612526). 1.1.4 Type 4 CGL (PTRF, recessive, OMIM #613327). 1.2.1 Type 1 FPLD (Köbberling syndrome; genes unknown, OMIM %608600). 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. In 2016, the European Consortium of Lipodystrophies (ECLip) decided to create a registry for patients with lipodystrophy
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