European lipodystrophy registry: background and structure

Abstract

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.

Keywords: Adipose tissue; Lipodystrophy; Rare diseases; Registry.

Conflict of interest statement

The ECLip Registry does not receive any funding from private companies. Some of the authors have however received fees or funding from private companies for work unrelated to the ECLip Registry:

J.v.S. has worked as a consultant for Rhythm Pharmaceuticals and Aegerion Pharmaceuticals and received travel funds from Ipsen, Novo Nordisk, and Merck Serono.

D.A-V. has worked as an advisor for Bristol-Myers-Squibb, AstraZeneca, and Aegerion Pharmaceuticals.

M.W. received personal fees from the Bristol-Myers Squibb, AstraZeneca and the Diabetes Alliance.

C.Vi has has received personal fees for consultancy from AstraZeneca and Aegerion Pharmaceuticals, for lectures from Ipsen, Lilly, Viiv Healthcare, Janssen-Cilag, Boehringer-Ingelheim and Merck Serono, for travel from Aegerion Pharmaceuticals, Laboratoires Servier, Novo Nordisk, Orkyn, Sanofi, Vitalaire, Air Products, Boehringer-Ingelheim, Gilead, Novartis and Bristol-Myers Squibb, and has received institutional research fundings from Aegerion Pharmaceuticals, Pierre Fabre Médicament, Laboratoires Servier and Roche Diagnostics.

F. S has worked as a consultant, participated in studies and/or received travel funds from the following companies that are involved with lipodistropy and/or diabetes: AstraZeneca, Aegerion, Pharmaceuticals, Novo Nordisk, Bruno Pharma.

M.C. V received non-financial support from Novartis, Aegerion Pharmaceuticials, Ipsen, Shire, HRA Pharma and personal fees from Sanofi.

P. S. received fees as a consultant by Aegerion Pharmaceuticals, Novo Nordisk, Bruno Pharma and AstraZeneca.

A. G. received fees as a consultant by Aegerion Pharmaceuticals.

B.A. has attended Advisory Board Meetings organized by Aegerion Pharmaceuticals and Regeneron Pharmaceuticals and has received honoraria as a speaker from AstraZeneca, Lilly, MSD, Novartis, Novo Nordisk, Boehringer-Ingelheim, Servier, and Sanofi-Aventis.

E.S.-S. has received a compensation from Aegerion Pharmaceuticals for her work as Consultant in a Portuguese Lipodystrophy Expert Meeting.

E.S. has received fees for her work on an advisory board for Regeneron and for AstraZeneca.

K.M. has received fees for consulting Aegerion Pharmaceuticals.

G.C. has received fees for consulting AstraZeneca, Aegerion Pharmaceuticals and Rhythm Pharmaceuticals.

C.Va. has has received personal fees for consultancy from AstraZeneca, Aegerion Pharmaceuticals, MSD, for lectures from Novo Nordisk, Sanofi, for travel from Aegerion Pharmaceuticals, Laboratoires Servier, Lilly, LVL, Novo Nordisk, Orkyn, Sanofi, Vitalaire, Novartis and has received institutional research fundings from Aegerion Pharmaceuticals, Sanofi.

C.A. received honoraria as a speaker from Aegerion Pharmaceuticals.

Figures

Fig. 1

Data transfer within the ECLip Registry. Figure 1 shows data transfer within the ECLip Registry from the patient to two separate servers localized at Ulm University. The online tool Mainzelliste provides patients pseudonyms whereas the metadata repository is stored at the provider of the IT structure, OSSE. OSSE: Open Source Registry System for Rare Diseases in the EU, PID: unique patient identifier, PNSOSSE: second-level pseudonym

Fig. 2

Map of all currently participating ECLip Registry centres (created from: www.freeworldmaps.net)