Ignite Creation Date:
2024-05-06 @ 10:51 AM
Last Modification Date:
2024-10-26 @ 12:36 PM
Study NCT ID:
NCT03364504
Status:
UNKNOWN
Last Update Posted:
2017-12-06
First Post:
2017-07-11
Brief Title:
Biological Collection of Kidney Cells
Sponsor:
University Hospital Angers
Organization:
University Hospital Angers
Study Overview
Official Title:
Biological Collection of Renal Cells for the Functional Study of the ABCC6 Transporter on iPS-derived Hepatocytes and Renal Cells
Status:
UNKNOWN
Status Verified Date:
2017-06
Last Known Status:
NOT_YET_RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
CRHiPS
Brief Summary:
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
Detailed Description:
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 involvementconsequences 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
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 involvementconsequences 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None