Introduction: The term lipodystrophy describes a rare disease subdivided into a heterogenous group of even rarer subforms. The rarity of this disease makes research in this area extremely difficult and international co-operation is mandatory to accumulate data sets of sufficient size. The European Consortium of Lipodystrophy (ECLip) consisting of an association of European experts in the field of lipodystrophy has therefore decided to set up a registry for patients with lipodystrophy using OSSE (Open Source Registry System for Rare Diseases in the EU) an open source software and toolbox (www.osse-register.de).
Methods: The Open Source Software OSSE provides an easily accessible IT framework and organizational processes to set up a Rare Diseases Registry. The platform is web based; data is entered locally at each center and transferred via the internet to a server. In this process, each patient is pseudonymized and identifying data (IDAT) and medical data (MDAT) are stored on different servers to comply data protection requirements.
Results: Medical data collected within the registry encompasses diagnosis including genetic analysis, onset and symptoms of disease and natural progression of disease, family history, anthropometry, comorbidities, metabolic changes and treatment. The information is divided into basic forms and longitudinal forms. The Registry has been registered at ClinicialTrials.gov and positive ethic vote at 6 institutions has been achieved, all of which are already entering patient data. Ten additional institutions are currently in the process of applying for ethic committee approval.
Discussion: The establishment and implementation of inter-institutional clinical care and research for rare diseases is difficult due to small patient numbers and heterogeneous IT infrastructure. By providing a networking-platform for experts for lipodystrophy from different countries and medical disciplines, this OSSE-based registry offers a new possibility to compare diagnosis of and care for affected patients across Europe. Apart from new insights into the pathophysiology of lipodystrophy this will help to develop improved therapeutic options for the patients. Furthermore, this registry strives to compile information material for patients and care-givers. Every center within and also without Europe interested in entering patient data is invited to participate in this registry.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology