Biological Collection of Renal Cells for the Functional Study of the ABCC6 Transporter on iPS-derived Hepatocytes and Renal Cells
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 10
- 主要终点
- Urine collection
研究概览
简要总结
Our objective is to obtain human induced pluripotent stem cells from urine samples of PXE patients for further proteomic and metabolomic studies and treatment screening.
详细描述
Pseudoxanthoma elasticum (PXE) is a genetic multysystem disorder with cutaneous, ophtalmological and cardiovascular involvement.
PXE is associated with mutations of ABCC6 gene coding for the membrane transporter ABCC6 protein. This transporter is normally expressed in hepatocytes and epithelial cells of renal proximal convoluted tubules.
Thus, PXE could be regarded as a metabolic disease of hepatic and renal origin, with clinical and biological involvement/consequences for remote organs.
The substance transported by ABCC6 protein being still unknown, ethiological PXE treatment does not exist yet. However, ABCC6 deficiency is associated with low level of blood PPi (pyrophosphate), which is natural inhibitor of calcium-phosphate deposition.
The aim of the project is to obtain the renal cells derived from PXE patients for their further usage in proteomic and metabolomic studies, as well as for screening of treatment modalities aimed to correct ABCC6 functional deficiency.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patient with PXE diagnosed on clinical and histological criteria, according to current guidelines
- •Patient aged over 18
- •Patient informed, having understood the purpose and means of the study and signed the consent of participation
- •Patient affiliated to the French social welfare system
排除标准
- •Pregnant or nursing PXE woman
- •Patient under guardianship, deprived of liberty by court or administrative decision, hospitalized without consent or admitted to a health or social institution for purposes other than research
研究组 & 干预措施
PXE patients
urine collection and culture of renal cells
干预措施: urine collection (Other)
结局指标
主要结局
Urine collection
时间窗: 24 hours
Three urine samples in each PXE in-patient consequences of the functional deficiency of the ABCC6 transporter involved in the pathophysiology of PXE
次要结局
- Isolation and culture of renal cells(8 weeks)
- Impact of ABCC6 mutations on renal cell functions(3 months)
- High throughput screening of drugs to restore ABCC6 function in PXE patients renal cells(3 months)