Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 350
- 试验地点
- 1
研究概览
简要总结
The cohort is intended to study the phenotypic expressions of the pseudoxanthoma elasticum (PXE) disease in various tissues (eye, skin, arteries, etc).
详细描述
This national french cohort is intended to improve our knowledge on the PXE disease. The study of phenotypic expression of the diseases is focused on cutaneous, opthalmologic and vascular tissues. All investigations are included in a yearly follow-up for these patients and collected in a database.
Plasma are also collected for all patients and stored in our clinical research biological center in Angers, including genetic (DNA) material extracted from diagnostic skin biopsy. French Ministry of Teaching and Research Authorisation number for the PXE collection is AC 2008 871. Declarative number is DC 2008 870.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with PXE disease
- •Informed consent obtained
- •Patient affiliated to Health care system (french social security)
排除标准
- •No informed consent
- •No affiliation to a Health care system