Biological Collection of Kidney Cells (CRHiPS)
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|ClinicalTrials.gov Identifier: NCT03364504|
Recruitment Status : Not yet recruiting
First Posted : December 6, 2017
Last Update Posted : December 6, 2017
|Condition or disease||Intervention/treatment||Phase|
|Pseudoxanthoma Elasticum||Other: urine collection||Not Applicable|
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.
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||10 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Primary Purpose:||Basic Science|
|Official Title:||Biological Collection of Renal Cells for the Functional Study of the ABCC6 Transporter on iPS-derived Hepatocytes and Renal Cells|
|Estimated Study Start Date :||January 2018|
|Estimated Primary Completion Date :||August 2018|
|Estimated Study Completion Date :||December 2018|
Experimental: PXE patients
urine collection and culture of renal cells
Other: urine collection
3 urine collections during 24 hours
- Urine collection [ Time Frame: 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
- Isolation and culture of renal cells [ Time Frame: 8 weeks ]According to the routine procedure of our lab
- Impact of ABCC6 mutations on renal cell functions [ Time Frame: 3 months ]Proteomic and metabolomic and RNAseq approaches
- High throughput screening of drugs to restore ABCC6 function in PXE patients renal cells [ Time Frame: 3 months ]Evaluation of PPi release and other relevant readouts