Biological Collection of Kidney Cells (CRHiPS)

December 5, 2017 updated by: University Hospital, Angers

Biological Collection of Renal Cells for the Functional Study of the ABCC6 Transporter on iPS-derived Hepatocytes and Renal Cells

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.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

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

Interventional

Enrollment (Anticipated)

10

Phase

  • Not Applicable

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Basic Science
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
24 hours

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Isolation and culture of renal cells
Time Frame: 8 weeks
According to the routine procedure of our lab
8 weeks
Impact of ABCC6 mutations on renal cell functions
Time Frame: 3 months
Proteomic and metabolomic and RNAseq approaches
3 months
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
3 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Angers

Collaborators

Hungarian Academy of Sciences
Université de Nantes

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Anticipated)

January 1, 2018

Primary Completion (Anticipated)

August 1, 2018

Study Completion (Anticipated)

December 1, 2018

Study Registration Dates

First Submitted

July 11, 2017

First Submitted That Met QC Criteria

December 5, 2017

First Posted (Actual)

December 6, 2017

Study Record Updates

Last Update Posted (Actual)

December 6, 2017

Last Update Submitted That Met QC Criteria

December 5, 2017

Last Verified

June 1, 2017

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 49RC17_0063

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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