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Biological Collection of Kidney Cells (CRHiPS)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT03364504
Recruitment Status : Unknown
Verified June 2017 by University Hospital, Angers.
Recruitment status was:  Not yet recruiting
First Posted : December 6, 2017
Last Update Posted : December 6, 2017
Université de Nantes
Hungarian Academy of Sciences
Information provided by (Responsible Party):
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.

Condition or disease Intervention/treatment Phase
Pseudoxanthoma Elasticum Other: urine collection Not Applicable

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.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 10 participants
Allocation: N/A
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

Resource links provided by the National Library of Medicine

Arm Intervention/treatment
Experimental: PXE patients
urine collection and culture of renal cells
Other: urine collection
3 urine collections during 24 hours

Primary Outcome Measures :
  1. 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

Secondary Outcome Measures :
  1. Isolation and culture of renal cells [ Time Frame: 8 weeks ]
    According to the routine procedure of our lab

  2. Impact of ABCC6 mutations on renal cell functions [ Time Frame: 3 months ]
    Proteomic and metabolomic and RNAseq approaches

  3. 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

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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
Publications of Results:
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Responsible Party: University Hospital, Angers Identifier: NCT03364504    
Other Study ID Numbers: 49RC17_0063
First Posted: December 6, 2017    Key Record Dates
Last Update Posted: December 6, 2017
Last Verified: June 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University Hospital, Angers:
renal cells
drug screening
Additional relevant MeSH terms:
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Pseudoxanthoma Elasticum
Hemostatic Disorders
Vascular Diseases
Cardiovascular Diseases
Hemorrhagic Disorders
Hematologic Diseases
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Connective Tissue Diseases
Skin Diseases