National Cohort on the Vascular Ehlers-Danlos Syndrome (SEDv)
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 340
- 试验地点
- 17
- 主要终点
- Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on functional criteria (spontaneous arterial, digestive, obstetrical and pulmonary events)
研究概览
简要总结
The goal of this observational study is to describe the natural course of vascular Ehlers-Danlos syndrome, in particular the order of appearance of different types of complications (arterial, digestive, pulmonary and uterine).
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients eligible for inclusion in this study have to fulfil all of the following criteria:
- •Patients (adults and children) with genetically-proven vEDS (presence of a pathogenic mutation at the COL3A1 gene);
- •Patients (or his/her legal guardian) who does not oppose to his/her personal data collection.
- •There are no
排除标准
- •for this study.
结局指标
主要结局
Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on functional criteria (spontaneous arterial, digestive, obstetrical and pulmonary events)
时间窗: Through study completion, an average of 3 years
Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on surgical criteria (types and complications)
时间窗: Through study completion, an average of 3 years
Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on evaluation of the quality of life (impact on daily life, social life and professional activity)
时间窗: Through study completion, an average of 3 years
Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on the presence of complications at delivery or after C-section
时间窗: Through study completion, an average of 3 years
Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on anatomical criteria (number and type of arterial lesions or angioscanner or MRI)
时间窗: Through study completion, an average of 3 years
Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on evaluation of mortality (death, disability)
时间窗: Through study completion, an average of 3 years
次要结局
- Assessment of the repercussions of vEDS on patients' quality of life evaluated through scores of quality of life questionnaire Short-Form Health Survey (SF-36)(Through study completion, an average of 3 years)
- Evaluation of the global cost of vEDS cares(Through study completion, an average of 3 years)
- Assessment of the correlation between the diffusion of arterial lesions and the occurrence of cardiovascular complication(Through study completion, an average of 3 years)
- Study of the intrafamilial phenotypes relationships(Through study completion, an average of 3 years)
- Evaluation of the therapeutic management(Through study completion, an average of 3 years)
- Assessment of the repercussions of vEDS on patients' quality of life evaluated through scores of quality of life questionnaire Short-Form Health Survey (SF-10)(Through study completion, an average of 3 years)
- Assessment of the repercussions of vEDS on patients' quality of life evaluated through scores of quality of life questionnaire HADS(Through study completion, an average of 3 years)
- Assessment of the repercussions of vEDS on patients' quality of life evaluated through scores of quality of life questionnaire socio-professional life(Through study completion, an average of 3 years)
- Study of prospective genotype-phenotype relationships(Through study completion, an average of 3 years)