Ignite Creation Date:
2025-12-24 @ 11:59 AM
Ignite Modification Date:
2026-02-21 @ 9:15 PM
Study NCT ID:
NCT04525261
Status:
COMPLETED
Last Update Posted:
2023-11-29
First Post:
2020-07-31
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C536601', 'term': 'Amaurosis congenita of Leber, type 2'}, {'id': 'C566718', 'term': 'Retinitis Pigmentosa 20'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 60}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2020-05-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-11', 'completionDateStruct': {'date': '2020-07-31', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2023-11-28', 'studyFirstSubmitDate': '2020-07-31', 'studyFirstSubmitQcDate': '2020-08-22', 'lastUpdatePostDateStruct': {'date': '2023-11-29', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2020-08-25', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2020-07-31', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'best correct visual acuity', 'timeFrame': 'at least one year', 'description': 'average annual progression rate of best correct visual acuity over the retrospective follow-up period'}, {'measure': 'visual field', 'timeFrame': 'at least one year', 'description': 'average annual progression rate of visual field over the retrospective follow-up period'}, {'measure': 'optical coherence tomography', 'timeFrame': 'at least one year', 'description': 'average annual progression rate of central retinal thickness over the retrospective follow-up period'}], 'secondaryOutcomes': [{'measure': 'microperimetry', 'timeFrame': 'at least one year', 'description': 'average annual progression rate of macular sensitivity assessed by microperimetry over the retrospective follow-up period'}, {'measure': 'fundus autofluorescence', 'timeFrame': 'at least one year', 'description': 'change in fundus autofluorescence over the retrospective follow-up period'}, {'measure': 'Full-field Electroretinogram', 'timeFrame': 'at least one year', 'description': 'average annual progression rate of full-field electroretinogram responses over the retrospective follow-up period'}, {'measure': 'Multifocal Electroretinogram', 'timeFrame': 'at least one year', 'description': 'average annual progression rate of multifocal electroretinogram responses over the retrospective follow-up period'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['RPE65-related inherited retinal dystrophies', 'natural history study'], 'conditions': ['Leber Congenital Amaurosis 2', 'Retinitis Pigmentosa 20']}, 'descriptionModule': {'briefSummary': 'Rationale:\n\nIn preparation for treatment with gene therapy, this study is being conducted in order to investigate the natural history of Inherited Retinal Dystrophies (IRDs) due to mutations in RPE65 gene. Such a study will help identify suitable patients for therapeutic intervention.\n\nMethodology:\n\nThis is a multicenter retrospective, descriptive chart review study designed to assess retinal structure and function in subjects with IRDs due to mutation in RPE65 gene by visual acuity, visual field measurements, Optical Coherence Tomography (OCT), and a number of other vision-related assessments.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '3 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'It is expected that approximately 200 patients may be recruited into the study during the recruitment period.\n\nEach subject must participate in the informed consent process and provide written informed consent/assent before any data could be collected.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Must be willing to adhere to protocol as evidenced by written informed consent or parental permission and subject assent.\n* Subjects diagnosed with Retinitis Pigmentosa or Leber Congenital Amaurosis.\n* Molecular diagnosis showing mutations (homozygotes or compound heterozygotes) in RPE65 gene.\n* Age three years old or older.\n* Minimum of two office / clinic visits encounters with ophthalmic assessment that span a follow-up period of at least 1 year with the last visit occurring within the last six months (before signature of informed consent and of study start).\n\nExclusion Criteria:\n\n* Unable or unwilling to meet requirements of the study.\n* Participation in a clinical study with an investigational drug during the retrospective study time period (i.e., from 01/01/1990 to study start date).'}, 'identificationModule': {'nctId': 'NCT04525261', 'acronym': 'RPE65-NHS', 'briefTitle': 'Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene', 'organization': {'class': 'OTHER', 'fullName': 'University of Campania Luigi Vanvitelli'}, 'officialTitle': 'Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene', 'orgStudyIdInfo': {'id': 'RPE65-NHS'}}, 'contactsLocationsModule': {'locations': [{'city': 'Camposampiero', 'country': 'Italy', 'facility': 'Ospedale di Camposampiero, ULSS6 Euganea, Camposampiero', 'geoPoint': {'lat': 45.56368, 'lon': 11.93534}}, {'city': 'Florence', 'country': 'Italy', 'facility': 'UOC Oculistica - AOU Careggi', 'geoPoint': {'lat': 43.77925, 'lon': 11.24626}}, {'city': 'Milan', 'country': 'Italy', 'facility': 'UOC Oculistica - Ospedale Sacco', 'geoPoint': {'lat': 45.46427, 'lon': 9.18951}}, {'city': 'Milan', 'country': 'Italy', 'facility': 'UOC Oculistica - Ospedale San Paolo', 'geoPoint': {'lat': 45.46427, 'lon': 9.18951}}, {'city': 'Naples', 'country': 'Italy', 'facility': 'UOC Oculistica - AOU Università degli Studi della Campania Luigi Vanvitelli', 'geoPoint': {'lat': 40.85216, 'lon': 14.26811}}, {'city': 'Pavia', 'country': 'Italy', 'facility': "Centro di Neuroftalmologia dell'età evolutiva - IRCCS Fondazione Istituto Neurologico Nazionale C. Mondino", 'geoPoint': {'lat': 45.19205, 'lon': 9.15917}}, {'city': 'Pavia', 'country': 'Italy', 'facility': 'UOC Oculistica - Fondazione IRCCS Policlinico San Matteo', 'geoPoint': {'lat': 45.19205, 'lon': 9.15917}}, {'city': 'Rome', 'country': 'Italy', 'facility': 'UOC Oculistica - Ospedale Bambin Gesù di Roma', 'geoPoint': {'lat': 41.89193, 'lon': 12.51133}}, {'city': 'Rome', 'country': 'Italy', 'facility': 'UOC Oculistica - Policlinico Gemelli di Roma', 'geoPoint': {'lat': 41.89193, 'lon': 12.51133}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of Campania Luigi Vanvitelli', 'class': 'OTHER'}, 'collaborators': [{'name': 'Retina Italia Onlus', 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Prof', 'investigatorFullName': 'Francesca Simonelli', 'investigatorAffiliation': 'University of Campania Luigi Vanvitelli'}}}}