An interventional study of urine collection in Pseudoxanthoma Elasticum, sponsored by University Hospital, Angers. Status unknown. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2017-12-06.
Sponsored by University Hospital, Angers · Not applicable, Interventional, and Basic science
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.
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.
32 studies on the registry are indexed under Pseudoxanthoma Elasticum; 6 are open to participants now.
This study's planned enrollment of 10 is below the median of 21 across 16 interventional studies indexed under Pseudoxanthoma Elasticum.
Browse Pseudoxanthoma Elasticum studies →University Hospital, Angers is the lead sponsor of 478 studies on the registry; 120 are open to participants now.
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Exclusion Criteria:
urine collection and culture of renal cells
Other: urine collection
3 urine collections during 24 hours
Urine collection
Three urine samples in each PXE in-patient consequences of the functional deficiency of the ABCC6 transporter involved in the pathophysiology of PXE
Time frame: 24 hours
Isolation and culture of renal cells
According to the routine procedure of our lab
Time frame: 8 weeks
Impact of ABCC6 mutations on renal cell functions
Proteomic and metabolomic and RNAseq approaches
Time frame: 3 months
High throughput screening of drugs to restore ABCC6 function in PXE patients renal cells
Evaluation of PPi release and other relevant readouts
Time frame: 3 months
No study locations are listed for this record.
Plan to share: No
This study is status unknown, as verified in Jun 2017. You cannot join it, but the record below documents what was studied.
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