NCT03364504

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.

Trial Health

35
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
10

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Jan 2018

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

July 11, 2017

Completed
5 months until next milestone

First Posted

Study publicly available on registry

December 6, 2017

Completed
26 days until next milestone

Study Start

First participant enrolled

January 1, 2018

Completed
7 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 1, 2018

Completed
4 months until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2018

Completed
Last Updated

December 6, 2017

Status Verified

June 1, 2017

Enrollment Period

7 months

First QC Date

July 11, 2017

Last Update Submit

December 5, 2017

Conditions

Pseudoxanthoma Elasticum

Keywords

PXErenal cellsurinecalcificationomicsdrug screening

Outcome Measures

Primary Outcomes (1)

  • 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

    24 hours

Secondary Outcomes (3)

  • Isolation and culture of renal cells

    8 weeks

  • Impact of ABCC6 mutations on renal cell functions

    3 months

  • High throughput screening of drugs to restore ABCC6 function in PXE patients renal cells

    3 months

Study Arms (1)

PXE patients

EXPERIMENTAL

urine collection and culture of renal cells

Other: urine collection

Interventions

urine collectionOTHER

3 urine collections during 24 hours

PXE patients

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Related Publications (4)

  • Si-Tayeb K, Idriss S, Champon B, Caillaud A, Pichelin M, Arnaud L, Lemarchand P, Le May C, Zibara K, Cariou B. Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia. Dis Model Mech. 2016 Jan;9(1):81-90. doi: 10.1242/dmm.022277. Epub 2015 Nov 19.

    PMID: 26586530RESULT

  • Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet. 2005 Dec;42(12):881-92. doi: 10.1136/jmg.2004.030171. Epub 2005 May 13.

    PMID: 15894595RESULT

  • Jansen RS, Duijst S, Mahakena S, Sommer D, Szeri F, Varadi A, Plomp A, Bergen AA, Oude Elferink RP, Borst P, van de Wetering K. ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report. Arterioscler Thromb Vasc Biol. 2014 Sep;34(9):1985-9. doi: 10.1161/ATVBAHA.114.304017. Epub 2014 Jun 26.

    PMID: 24969777RESULT

  • Jansen RS, Kucukosmanoglu A, de Haas M, Sapthu S, Otero JA, Hegman IE, Bergen AA, Gorgels TG, Borst P, van de Wetering K. ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release. Proc Natl Acad Sci U S A. 2013 Dec 10;110(50):20206-11. doi: 10.1073/pnas.1319582110. Epub 2013 Nov 25.

    PMID: 24277820RESULT

MeSH Terms

Conditions

Pseudoxanthoma ElasticumCalcinosis

Interventions

Urine Specimen Collection

Condition Hierarchy (Ancestors)

Hemostatic DisordersVascular DiseasesCardiovascular DiseasesHemorrhagic DisordersHematologic DiseasesHemic and Lymphatic DiseasesSkin AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin Diseases, GeneticGenetic Diseases, InbornConnective Tissue DiseasesSkin and Connective Tissue DiseasesSkin DiseasesCalcium Metabolism DisordersMetabolic DiseasesNutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisInvestigative Techniques

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
BASIC SCIENCE
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER GOV
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 11, 2017

First Posted

December 6, 2017

Study Start

January 1, 2018

Primary Completion

August 1, 2018

Study Completion

December 1, 2018

Last Updated

December 6, 2017

Record last verified: 2017-06

Data Sharing

IPD Sharing
Will not share