Ignite Creation Date:
2025-12-24 @ 6:55 PM
Ignite Modification Date:
2026-01-27 @ 12:59 AM
Study NCT ID:
NCT01022957
Status:
COMPLETED
Last Update Posted:
2025-11-20
First Post:
2009-11-30
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Nephronophthisis : Clinical and Genetic Study
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C537699', 'term': 'Nephronophthisis, familial juvenile'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'DIAGNOSTIC', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 150}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2006-11'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-10', 'completionDateStruct': {'date': '2010-01', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2025-11-17', 'studyFirstSubmitDate': '2009-11-30', 'studyFirstSubmitQcDate': '2009-11-30', 'lastUpdatePostDateStruct': {'date': '2025-11-20', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2009-12-01', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2010-01', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'to determine the long term evolution of Nephronophthisis in terms of renal disease as well as extra-renal damages for patients having a confirmed diagnosis of NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation', 'timeFrame': 'start from the first time of clinical diagnosis to now'}], 'secondaryOutcomes': [{'measure': 'to study siblings to anticipate clinical complications (renal and extra-renal damages) of Nephronophthisis'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['extra renal damages'], 'conditions': ['Nephronophthisis']}, 'descriptionModule': {'briefSummary': 'to describe evolution of Nephronophthisis', 'detailedDescription': 'To specify the long term evolution of Nephronophthisis in terms of renal disease as well as extra-renal damages for patients having a confirmed diagnosis of NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '7 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation\n* 7 years old and older\n\nExclusion Criteria:\n\n* MRI contra-indications'}, 'identificationModule': {'nctId': 'NCT01022957', 'acronym': 'NEPHAER', 'briefTitle': 'Nephronophthisis : Clinical and Genetic Study', 'organization': {'class': 'OTHER', 'fullName': 'Assistance Publique - Hôpitaux de Paris'}, 'officialTitle': 'Characterization and Analysis of Long-term Evolution of Renal and Extra-renal Damages in the Course of Nephronophthisis', 'orgStudyIdInfo': {'id': 'P050605'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Study group', 'description': 'Neurological, ophthalmological, olfactive exams and cerebral MRI', 'interventionNames': ['Genetic: genetic diagnosis']}], 'interventions': [{'name': 'genetic diagnosis', 'type': 'GENETIC', 'description': 'to determine the long term evolution of Nephronophthisis in terms of renal disease as well as extra-renal damages for patients having a confirmed diagnosis of NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation', 'armGroupLabels': ['Study group']}]}, 'contactsLocationsModule': {'locations': [{'zip': '75015', 'city': 'Paris', 'country': 'France', 'facility': 'Hopital Necker', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'overallOfficials': [{'name': 'Rémi SALOMON, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Assistance Publique - Hôpitaux de Paris'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Assistance Publique - Hôpitaux de Paris', 'class': 'OTHER'}, 'collaborators': [{'name': 'URC-CIC Paris Descartes Necker Cochin', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}