Ignite Creation Date:
2025-12-25 @ 1:43 AM
Ignite Modification Date:
2026-03-11 @ 2:08 AM
Study NCT ID:
NCT02857894
Status:
TERMINATED
Last Update Posted:
2018-10-29
First Post:
2016-08-03
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated)
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D020256', 'term': 'Choroidal Neovascularization'}, {'id': 'D000092342', 'term': 'Polypoidal Choroidal Vasculopathy'}], 'ancestors': [{'id': 'D015862', 'term': 'Choroid Diseases'}, {'id': 'D014603', 'term': 'Uveal Diseases'}, {'id': 'D005128', 'term': 'Eye Diseases'}, {'id': 'D009389', 'term': 'Neovascularization, Pathologic'}, {'id': 'D008679', 'term': 'Metaplasia'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 7}, 'patientRegistry': False}, 'statusModule': {'whyStopped': 'Mutations found do not modify the ATM protein+ modifications of methodology would be necessary', 'overallStatus': 'TERMINATED', 'startDateStruct': {'date': '2015-11-05', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2018-10', 'completionDateStruct': {'date': '2018-10-23', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2018-10-26', 'studyFirstSubmitDate': '2016-08-03', 'studyFirstSubmitQcDate': '2016-08-03', 'lastUpdatePostDateStruct': {'date': '2018-10-29', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2016-08-05', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2018-10-23', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Variants in the ATM gene', 'timeFrame': 'Day 1', 'description': 'Compared analysis of the variants frequency (heterozygote, homozygote variants versus the wild variant) in the ATM gene.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Polypoidal choroidal vasculopathy'], 'conditions': ['Choroidal Neovascularization']}, 'descriptionModule': {'briefSummary': 'Polypoidal choriodal vasculopathy (PCV) is an ophthalmologic disease, characterized by vascular abnormalities of the walls of small choroidal vessels, reproducing the specific aspect of polyps (cluster aspect). PCV is one of the "boundary-forms" of age related macular degeneration.\n\nThese vasculopathies can be idiopathic. Following the radiotherapy treatments of active and occult-typed neovessels in Age-Related Macular Degeneration (ARMD), 10% of the patients would present typical polypoidal vasculopathic lesions. These polypoidal secondary lesions have been induced by radiotherapy treatment and may show an increased sensibility to radiation in these patients.\n\nSuch an increase of radiosensibility is noticed in ataxia telangiectasia syndrome, in relation to the ATM gene mutations. The secondary or idiopathic polypoidal vasculopathic lesions are to be brought closer to telangiectasias in Ataxia Telangiectasia. Considering the iatrogenic component of radiotherapy in the secondary forms of ataxia telangiectasia, it seems legitimate to search for predisposing variants to polypoidal vasculopathies in the ATM gene.\n\nConsidering the frequency of PCV worldwide, it seems important to identify the predisposing genetic factors of the ATM gene. These biomarkers to the pathology might enable us to offer prevention (reinforced protection against radiations, including light) and to develop therapeutics (recruitment of other kinases, ATM\'s partners, in the stability and cellular control of DNA).'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with polypoidal choriodal vasculopathy', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Adult caucasian patient\n* Polypoidal choriodal vasculopathy\n* Informed written consent\n\nExclusion Criteria:\n\n* History of cephalic radiotherapy\n* Absence of affiliation to social security or universal health coverage (CMU)'}, 'identificationModule': {'nctId': 'NCT02857894', 'acronym': 'ATM', 'briefTitle': 'Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated)', 'organization': {'class': 'NETWORK', 'fullName': 'Fondation Ophtalmologique Adolphe de Rothschild'}, 'officialTitle': 'Identification of the Predisposing Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated)', 'orgStudyIdInfo': {'id': 'MMT_2015_4'}}, 'contactsLocationsModule': {'locations': [{'zip': '75019', 'city': 'Paris', 'country': 'France', 'facility': 'Fondation Ophtalmologique A. de Rotchschild', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'overallOfficials': [{'name': 'Martine MAUGET FAYSSE', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Fondation Ophtalmologique A. de Rothschild'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Fondation Ophtalmologique Adolphe de Rothschild', 'class': 'NETWORK'}, 'responsibleParty': {'type': 'SPONSOR'}}}}