Ignite Creation Date:
2025-12-24 @ 9:18 PM
Ignite Modification Date:
2026-01-03 @ 2:17 AM
Study NCT ID:
NCT03364504
Status:
UNKNOWN
Last Update Posted:
2017-12-06
First Post:
2017-07-11
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Biological Collection of Kidney Cells
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D011561', 'term': 'Pseudoxanthoma Elasticum'}, {'id': 'D002114', 'term': 'Calcinosis'}], 'ancestors': [{'id': 'D020141', 'term': 'Hemostatic Disorders'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D006474', 'term': 'Hemorrhagic Disorders'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D012868', 'term': 'Skin Abnormalities'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D012873', 'term': 'Skin Diseases, Genetic'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D003240', 'term': 'Connective Tissue Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D002128', 'term': 'Calcium Metabolism Disorders'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D059349', 'term': 'Urine Specimen Collection'}], 'ancestors': [{'id': 'D013048', 'term': 'Specimen Handling'}, {'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'BASIC_SCIENCE', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 10}}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2018-01', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2017-06', 'completionDateStruct': {'date': '2018-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2017-12-05', 'studyFirstSubmitDate': '2017-07-11', 'studyFirstSubmitQcDate': '2017-12-05', 'lastUpdatePostDateStruct': {'date': '2017-12-06', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2017-12-06', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2018-08', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Urine collection', 'timeFrame': '24 hours', 'description': 'Three urine samples in each PXE in-patient consequences of the functional deficiency of the ABCC6 transporter involved in the pathophysiology of PXE'}], 'secondaryOutcomes': [{'measure': 'Isolation and culture of renal cells', 'timeFrame': '8 weeks', 'description': 'According to the routine procedure of our lab'}, {'measure': 'Impact of ABCC6 mutations on renal cell functions', 'timeFrame': '3 months', 'description': 'Proteomic and metabolomic and RNAseq approaches'}, {'measure': 'High throughput screening of drugs to restore ABCC6 function in PXE patients renal cells', 'timeFrame': '3 months', 'description': 'Evaluation of PPi release and other relevant readouts'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['PXE', 'renal cells', 'urine', 'calcification', 'omics', 'drug screening'], 'conditions': ['Pseudoxanthoma Elasticum']}, 'referencesModule': {'references': [{'pmid': '26586530', 'type': 'RESULT', 'citation': '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': '15894595', 'type': 'RESULT', 'citation': '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': '24969777', 'type': 'RESULT', 'citation': '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': '24277820', 'type': 'RESULT', 'citation': '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.'}]}, 'descriptionModule': {'briefSummary': '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.', 'detailedDescription': 'Pseudoxanthoma elasticum (PXE) is a genetic multysystem disorder with cutaneous, ophtalmological and cardiovascular involvement.\n\nPXE 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.\n\nThus, PXE could be regarded as a metabolic disease of hepatic and renal origin, with clinical and biological involvement/consequences for remote organs.\n\nThe 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.\n\nThe 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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patient with PXE diagnosed on clinical and histological criteria, according to current guidelines\n* Patient aged over 18\n* Patient informed, having understood the purpose and means of the study and signed the consent of participation\n* Patient affiliated to the French social welfare system\n\nExclusion Criteria:\n\n* Pregnant or nursing PXE woman\n* 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'}, 'identificationModule': {'nctId': 'NCT03364504', 'acronym': 'CRHiPS', 'briefTitle': 'Biological Collection of Kidney Cells', 'organization': {'class': 'OTHER_GOV', 'fullName': 'University Hospital, Angers'}, 'officialTitle': 'Biological Collection of Renal Cells for the Functional Study of the ABCC6 Transporter on iPS-derived Hepatocytes and Renal Cells', 'orgStudyIdInfo': {'id': '49RC17_0063'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'PXE patients', 'description': 'urine collection and culture of renal cells', 'interventionNames': ['Other: urine collection']}], 'interventions': [{'name': 'urine collection', 'type': 'OTHER', 'description': '3 urine collections during 24 hours', 'armGroupLabels': ['PXE patients']}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Angers', 'class': 'OTHER_GOV'}, 'collaborators': [{'name': 'Université de Nantes', 'class': 'OTHER'}, {'name': 'Hungarian Academy of Sciences', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}