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Trial record 1 of 1 for:    CRHiPS
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Biological Collection of Kidney Cells (CRHiPS)

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ClinicalTrials.gov 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

Tracking Information
First Submitted Date  ICMJE July 11, 2017
First Posted Date  ICMJE December 6, 2017
Last Update Posted Date December 6, 2017
Estimated Study Start Date  ICMJE January 2018
Estimated Primary Completion Date August 2018   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: December 5, 2017)
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
Original Primary Outcome Measures  ICMJE Same as current
Change History No Changes Posted
Current Secondary Outcome Measures  ICMJE
 (submitted: December 5, 2017)
  • 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
Original Secondary Outcome Measures  ICMJE Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title  ICMJE Biological Collection of Kidney Cells
Official Title  ICMJE Biological Collection of Renal Cells for the Functional Study of the ABCC6 Transporter on iPS-derived Hepatocytes and Renal Cells
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.

Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Condition  ICMJE Pseudoxanthoma Elasticum
Intervention  ICMJE Other: urine collection
3 urine collections during 24 hours
Study Arms  ICMJE Experimental: PXE patients
urine collection and culture of renal cells
Intervention: Other: urine collection
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status  ICMJE Unknown status
Estimated Enrollment  ICMJE
 (submitted: December 5, 2017)
Original Estimated Enrollment  ICMJE Same as current
Estimated Study Completion Date  ICMJE December 2018
Estimated Primary Completion Date August 2018   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE Contact information is only displayed when the study is recruiting subjects
Listed Location Countries  ICMJE Not Provided
Removed Location Countries  
Administrative Information
NCT Number  ICMJE NCT03364504
Other Study ID Numbers  ICMJE 49RC17_0063
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement  ICMJE
Plan to Share IPD: No
Current Responsible Party University Hospital, Angers
Original Responsible Party Same as current
Current Study Sponsor  ICMJE University Hospital, Angers
Original Study Sponsor  ICMJE Same as current
Collaborators  ICMJE
  • Université de Nantes
  • Hungarian Academy of Sciences
Investigators  ICMJE Not Provided
PRS Account University Hospital, Angers
Verification Date June 2017

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP