Biological Collection of Kidney Cells

Biological Collection of Renal Cells for the Functional Study of the ABCC6 Transporter on iPS-derived Hepatocytes and Renal Cells


Lead Sponsor: University Hospital, Angers

Collaborator: Université de Nantes
Hungarian Academy of Sciences

Source University Hospital, Angers
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 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.

Overall Status Unknown status
Start Date 2018-01-01
Completion Date 2018-12-01
Primary Completion Date 2018-08-01
Phase N/A
Study Type Interventional
Primary Outcome
Measure Time Frame
Urine collection 24 hours
Secondary Outcome
Measure Time Frame
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
Enrollment 10

Intervention Type: Other

Intervention Name: urine collection

Description: 3 urine collections during 24 hours

Arm Group Label: PXE patients



Inclusion Criteria: - 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 Exclusion Criteria: - 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



Minimum Age:

18 Years

Maximum Age:


Healthy Volunteers:


Verification Date


Responsible Party

Type: Sponsor

Has Expanded Access No
Condition Browse
Number Of Arms 1
Arm Group

Label: PXE patients

Type: Experimental

Description: urine collection and culture of renal cells

Acronym CRHiPS
Patient Data No
Study Design Info

Allocation: N/A

Intervention Model: Single Group Assignment

Primary Purpose: Basic Science

Masking: None (Open Label)

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