Working...
ClinicalTrials.gov
ClinicalTrials.gov Menu

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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT03364504
Recruitment Status : Not yet recruiting
First Posted : December 6, 2017
Last Update Posted : December 6, 2017
Sponsor:
Collaborators:
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.


Layout table for study information
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


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

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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

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:
Layout table for additonal information
Responsible Party: University Hospital, Angers
ClinicalTrials.gov Identifier: NCT03364504     History of Changes
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

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by University Hospital, Angers:
PXE
renal cells
urine
calcification
omics
drug screening

Additional relevant MeSH terms:
Layout table for MeSH terms
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