The registry
Introduction
Lipodystrophy syndromes are a group of rare diseases marked by loss of adipose tissue without nutritional or catabolic causes. Lipodystrophies can have genetic (caused by a genetic mutation) or acquired (caused by another condition) causes. Taking into account the extension of the fat loss, lipodystrophies can be classified into generalized, partial and local lipodystrophies (classification of lipodystrophies).
With an estimated prevalence of 1.3–4.7 per million (Chiquette et al. 2017), lipodystrophy syndromes are very rare and therefore account as orphan diseases. Due to its orphan disease status and heterogeneous phenotypes, lipodystrophy is commonly underdiagnosed and patients often do not receive appropriate treatment.
The European Consortium of Lipodystrophy (ECLip), a network of European experts, has established a registry to gather patient data, aiming to improve disease understanding, awareness, and patient care.
Aims of the registry
The aim of this registry is to enable physicians and scientists across but also outside of Europe to work together in the field of lipodystrophy and to accumulate sufficient data for sound research in this area.
- assess prevalence rates, including regional rates
- describe the distribution of different lipodystrophy syndromes
- learn about the natural course of each disease subtype
- learn about the prevalence and severity of the associated comorbidities
- study the contribution of genetic factors to the disease
- access sufficient number of patients to permit testing new therapies as nested investigations
- facilitate scientific exchange and cooperation in the field of lipodystrophy research and clinical care
- disseminate information about lipodystrophy syndromes
Together we strive for a better scientific understanding of lipodystrophy and improvement of patient care and information.
Organizational structure
IT framework
The ECLip registry is based on OSSE (Open Source Registry System for Rare Diseases in the EU). This software has been specifically developed for international rare disease registries, is imbedded in various ERNs (European Reference Networks) and is the basis for a range of other registries.
Pillars of the ECLip registry:
- A high level of data protection according to the General Data Protection Regulation (EU) 2016/679
- Identifying data (IDAT) and medical data (MDAT) are transferred and stored on different servers to comply with all current data protection requirements
- Data handling according to FAIR principles (findable, accessible, interoperable, reusable)
- Interaction with other registries (affiliated registry to EuRREB)
- Registration at ClinicalTrials.gov (ID: NCT03553420)
- Based on the recommendations of the EU-RD platform (Core data set)
Organizational structure
Any center/physician looking after patients with lipodystrophy can apply to become ECLip Registry member. The registry is organized as follows:
