Biological Collection of Kidney Cells (CRHiPS)

University Hospital, Angers

Status: Unknown

Conditions: Pseudoxanthoma Elasticum

Treatments: Other: urine collection

Study type: Interventional

Funder types: Other

Identifiers

NCT03364504

49RC17_0063

Details and patient eligibility

About

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.

Full 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.

Enrollment: 10 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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10 participants in 1 patient group

PXE patients

Experimental group

Description:

urine collection and culture of renal cells

Treatment:

Other: urine collection