Osse Registry for Patients With Lipodystrophy Run by the European Consortium of Lipodystrophies (ECLip)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 5,000
- 试验地点
- 28
- 主要终点
- Age at death
研究概览
简要总结
Given the lack of knowledge on lipodystrophies, the medical and social responsibility for the persons affected by it calls for the monitoring of the progression over long periods of time. Sensible clinical and basic research into rare diseases such as lipodystrophy is only possible in multi-location networks with sufficient case numbers. Also, reliable information on the incidence of certain manifestation patterns, health status, etc. is of utmost importance for health care and health policy in this rare disease.
Therefore, the European Consortium of Lipodystrophies (ECLip), an association of European experts on lipodystrophy, has launched a registry (OSSE) for lipodystrophies which is committed to help to improve the research conditions by consolidating this kind of information in a registry.
详细描述
As lipodystrophies are rare diseases subdivided into yet rarer sub-groups, research in this field requires international co-operation.
The European Consortium of Lipodystrophy (ECLip) consists of an association of European experts in the field of lipodystrophy. It has set up a Registry Board to implement a registry for patients with lipodystrophy using the Open Source Software OSSE (Open Source Registry System for Rare Diseases in the EU), which is a web based platform focused on a federated approach that allows to perform distributed searches which are designed to comply data protection requirements and preserve data sovereignty. To ensure data protection, medical and identifying data will be stored on two different servers both run by the Institute for Epidemiology and Medical Biometry of the University of Ulm.
Medical centers from all over the world where patients are treated with lipodystrophy are invited to join the ECLip Registry and to become ECLip Registry members. Upon registration, they can enter patient data after they have obtained local ethic committee permission and the patient in question has given written consent to this. Data entry is done at the individual locations via a web-based user interface. Identifying data are recorded directly into the identity management system. Communication between the identity management and the OSSE registry happens via a web browser.
The aim of the patient registry is to compile data on the natural history of each different sub-group of lipodystrophies, their comorbidities, treatment options used and medical and quality of life out-come for the patients. For this, the following data retrieved from regular patient visits are collected:
- Precise diagnosis including moleculargenetic results
- Clinical presentation and comorbidities
- Laboratory changes and results of diagnostic procedures
- Natural course of the disease including age at onset of disease and comorbidities
- Family history
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •lipodystrophy
排除标准
- •lipodystrophy due to anti-retroviral drugs
结局指标
主要结局
Age at death
时间窗: after 20 years
patients are followed regularly, age at death (years) will be documented
次要结局
- change in somatic comorbidities under standard treatment(yearly for 50 years)
- age at onset of metabolic complications(yearly for 50 years)
- age at onset orthopedic complications(yearly for 50 years)
- genotype-phenotype correlation for patients with familial lipodystrophy(every 5 years for 50 years)
- age at onset neuromuscular complications(yearly for 50 years)
研究者
Julia von Schnurbein
Prinicipal Investigator
University of Ulm