Ignite Creation Date:
2025-12-24 @ 10:18 PM
Ignite Modification Date:
2026-02-03 @ 3:08 PM
Study NCT ID:
NCT02553135
Status:
COMPLETED
Last Update Posted:
2019-07-29
First Post:
2015-06-17
Is NOT Gene Therapy:
True
Has Adverse Events:
True
Brief Title:
Choroideremia Gene Therapy Clinical Trial
Sponsor:
Organization:
Raw JSON
{'hasResults': True, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D015794', 'term': 'Choroideremia'}], 'ancestors': [{'id': 'D015785', 'term': 'Eye Diseases, Hereditary'}, {'id': 'D005128', 'term': 'Eye Diseases'}, {'id': 'D015862', 'term': 'Choroid Diseases'}, {'id': 'D014603', 'term': 'Uveal Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}]}}, 'resultsSection': {'moreInfoModule': {'pointOfContact': {'email': 'blam@med.miami.edu', 'phone': '305-326-6021', 'title': 'Byron Lam , MD', 'organization': 'University of Miami'}, 'certainAgreement': {'piSponsorEmployee': True}}, 'adverseEventsModule': {'timeFrame': '24 months', 'eventGroups': [{'id': 'EG000', 'title': 'Injection of AAV2-REP1', 'description': 'Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL.\n\nInjection of AAV2-REP1 (10e11 vg): Single Group: single arm study', 'otherNumAtRisk': 6, 'deathsNumAtRisk': 6, 'otherNumAffected': 6, 'seriousNumAtRisk': 6, 'deathsNumAffected': 0, 'seriousNumAffected': 0}], 'otherEvents': [{'term': 'Cataract', 'stats': [{'groupId': 'EG000', 'numAtRisk': 6, 'numAffected': 1}], 'organSystem': 'Eye disorders', 'assessmentType': 'SYSTEMATIC_ASSESSMENT', 'sourceVocabulary': 'MedDRA 21.1'}, {'term': 'Diplopia', 'stats': [{'groupId': 'EG000', 'numAtRisk': 6, 'numAffected': 1}], 'organSystem': 'Eye disorders', 'assessmentType': 'SYSTEMATIC_ASSESSMENT', 'sourceVocabulary': 'MedDRA 21.1'}, {'term': 'Vitreous Cells', 'stats': [{'groupId': 'EG000', 'numAtRisk': 6, 'numAffected': 1}], 'organSystem': 'Eye disorders', 'assessmentType': 'SYSTEMATIC_ASSESSMENT', 'sourceVocabulary': 'MedDRA 21.1'}, {'term': 'Anterior Chamber Cells', 'stats': [{'groupId': 'EG000', 'numAtRisk': 6, 'numAffected': 1}], 'organSystem': 'Eye disorders', 'assessmentType': 'SYSTEMATIC_ASSESSMENT', 'sourceVocabulary': 'MedDRA 21.1'}, {'term': 'Extrafoveal macular retinal hole in area of nonfunctioning retina', 'stats': [{'groupId': 'EG000', 'numAtRisk': 6, 'numAffected': 2}], 'organSystem': 'Eye disorders', 'assessmentType': 'SYSTEMATIC_ASSESSMENT', 'sourceVocabulary': 'MedDRA 21.1'}, {'term': 'Subretinal fluid', 'stats': [{'groupId': 'EG000', 'numAtRisk': 6, 'numAffected': 5}], 'organSystem': 'Eye disorders', 'assessmentType': 'SYSTEMATIC_ASSESSMENT', 'sourceVocabulary': 'MedDRA 21.1'}, {'term': 'Conjunctiva hemorrhage, edema', 'stats': [{'groupId': 'EG000', 'numAtRisk': 6, 'numAffected': 6}], 'organSystem': 'Eye disorders', 'assessmentType': 'SYSTEMATIC_ASSESSMENT', 'sourceVocabulary': 'MedDRA 21.1'}], 'frequencyThreshold': '0'}, 'outcomeMeasuresModule': {'outcomeMeasures': [{'type': 'PRIMARY', 'title': 'Change in Best Corrected Visual Acuity From Baseline', 'denoms': [{'units': 'Participants', 'counts': [{'value': '6', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'Injection of AAV2-REP1', 'description': 'Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL.\n\nInjection of AAV2-REP1 (10e11 vg): Single Group: single arm study'}], 'classes': [{'categories': [{'measurements': [{'value': '3.0', 'spread': '4.0', 'groupId': 'OG000'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'Baseline, 24 Months', 'description': 'Patients will have an assessment of visual acuity using the Early Treatment of Diabetic Retinopathy Study (ETDRS) vision charts in both eyes. Low Luminance BCVA was measured by placing a 2.0 log unit neutral density filter over the best correction for that eye and having the participant read the normally illuminated ETDRS chart and was reported as the number of letters read correctly (ranging from 0 to 100 letters) in the study eye. The lower the number of letters read correctly on the eye chart, the worse the vision (or visual acuity). The study eye was defined as the eye that met inclusion/exclusion criteria with the worst standard BCVA. If the BCVA in both eyes was similar the Patient determines the worse eye be selected as the study eye. A positive change from baseline indicates an improvement and a negative change from baseline indicates a worsening.', 'unitOfMeasure': 'Letters', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED'}, {'type': 'SECONDARY', 'title': 'Change in Retinal Macular Autofluorescence From Baseline', 'denoms': [{'units': 'Participants', 'counts': [{'value': '6', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'Injection of AAV2-REP1', 'description': 'Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL.\n\nInjection of AAV2-REP1 (10e11 vg): Single Group: single arm study'}], 'classes': [{'title': 'Baseline to 12 Months', 'categories': [{'measurements': [{'value': '-3.4', 'spread': '3.6', 'groupId': 'OG000'}]}]}, {'title': 'Baseline to 24 Months', 'categories': [{'measurements': [{'value': '2.8', 'spread': '2.9', 'groupId': 'OG000'}]}]}], 'paramType': 'MEAN', 'timeFrame': '12 and 24 months', 'description': 'Measured in mm\\^2 by Fundus Autofluorescence and shows changes in the integrity and metabolism of retinal cells. A negative change from baseline indicates a decrease in size of the retained retina (worsening; disease progression).', 'unitOfMeasure': 'mm^2', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED'}, {'type': 'SECONDARY', 'title': 'Changes in Microperimetry From Baseline', 'denoms': [{'units': 'Participants', 'counts': [{'value': '6', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'Injection of AAV2-REP1', 'description': 'Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL.\n\nInjection of AAV2-REP1 (10e11 vg): Single Group: single arm study'}], 'classes': [{'categories': [{'measurements': [{'value': '0.823', 'spread': '1.789', 'groupId': 'OG000'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'Baseline to 24 months', 'description': 'Microperimetry assessments. A negative change from baseline indicates disease worsening.', 'unitOfMeasure': 'Average Threshold dB', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED'}, {'type': 'SECONDARY', 'title': 'Number of Participants Who Experience an Adverse Event', 'denoms': [{'units': 'Participants', 'counts': [{'value': '6', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'Injection of AAV2-REP1', 'description': 'Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL.\n\nInjection of AAV2-REP1 (10e11 vg): Single Group: single arm study'}], 'classes': [{'categories': [{'measurements': [{'value': '6', 'groupId': 'OG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'timeFrame': '24 months', 'description': 'Adverse events during treatment and follow-up period', 'unitOfMeasure': 'Participants', 'reportingStatus': 'POSTED'}]}, 'participantFlowModule': {'groups': [{'id': 'FG000', 'title': 'Injection of AAV2-REP1', 'description': 'Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL.\n\nInjection of AAV2-REP1 (10e11 vg): Single Group: single arm study'}], 'periods': [{'title': 'Overall Study', 'milestones': [{'type': 'STARTED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '6'}]}, {'type': 'COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '6'}]}, {'type': 'NOT COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '0'}]}]}]}, 'baselineCharacteristicsModule': {'denoms': [{'units': 'Participants', 'counts': [{'value': '6', 'groupId': 'BG000'}]}], 'groups': [{'id': 'BG000', 'title': 'Injection of AAV2-REP1', 'description': 'Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL.\n\nInjection of AAV2-REP1 (10e11 vg): Single Group: single arm study'}], 'measures': [{'title': 'Age, Categorical', 'classes': [{'categories': [{'title': '<=18 years', 'measurements': [{'value': '0', 'groupId': 'BG000'}]}, {'title': 'Between 18 and 65 years', 'measurements': [{'value': '5', 'groupId': 'BG000'}]}, {'title': '>=65 years', 'measurements': [{'value': '1', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Sex: Female, Male', 'classes': [{'categories': [{'title': 'Female', 'measurements': [{'value': '0', 'groupId': 'BG000'}]}, {'title': 'Male', 'measurements': [{'value': '6', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Ethnicity (NIH/OMB)', 'classes': [{'categories': [{'title': 'Hispanic or Latino', 'measurements': [{'value': '1', 'groupId': 'BG000'}]}, {'title': 'Not Hispanic or Latino', 'measurements': [{'value': '5', 'groupId': 'BG000'}]}, {'title': 'Unknown or Not Reported', 'measurements': [{'value': '0', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Race (NIH/OMB)', 'classes': [{'categories': [{'title': 'American Indian or Alaska Native', 'measurements': [{'value': '0', 'groupId': 'BG000'}]}, {'title': 'Asian', 'measurements': [{'value': '0', 'groupId': 'BG000'}]}, {'title': 'Native Hawaiian or Other Pacific Islander', 'measurements': [{'value': '0', 'groupId': 'BG000'}]}, {'title': 'Black or African American', 'measurements': [{'value': '0', 'groupId': 'BG000'}]}, {'title': 'White', 'measurements': [{'value': '6', 'groupId': 'BG000'}]}, {'title': 'More than one race', 'measurements': [{'value': '0', 'groupId': 'BG000'}]}, {'title': 'Unknown or Not Reported', 'measurements': [{'value': '0', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}]}}, 'documentSection': {'largeDocumentModule': {'largeDocs': [{'date': '2015-05-18', 'size': 2133165, 'label': 'Study Protocol and Statistical Analysis Plan', 'hasIcf': False, 'hasSap': True, 'filename': 'Prot_SAP_000.pdf', 'typeAbbrev': 'Prot_SAP', 'uploadDate': '2019-06-25T09:02', 'hasProtocol': True}]}}, 'protocolSection': {'designModule': {'phases': ['PHASE2'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'TREATMENT', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 6}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2015-09', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2019-07', 'completionDateStruct': {'date': '2018-02', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2019-07-25', 'studyFirstSubmitDate': '2015-06-17', 'resultsFirstSubmitDate': '2019-06-30', 'studyFirstSubmitQcDate': '2015-09-16', 'lastUpdatePostDateStruct': {'date': '2019-07-29', 'type': 'ACTUAL'}, 'resultsFirstSubmitQcDate': '2019-07-25', 'studyFirstPostDateStruct': {'date': '2015-09-17', 'type': 'ESTIMATED'}, 'resultsFirstPostDateStruct': {'date': '2019-07-29', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2018-02', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Change in Best Corrected Visual Acuity From Baseline', 'timeFrame': 'Baseline, 24 Months', 'description': 'Patients will have an assessment of visual acuity using the Early Treatment of Diabetic Retinopathy Study (ETDRS) vision charts in both eyes. Low Luminance BCVA was measured by placing a 2.0 log unit neutral density filter over the best correction for that eye and having the participant read the normally illuminated ETDRS chart and was reported as the number of letters read correctly (ranging from 0 to 100 letters) in the study eye. The lower the number of letters read correctly on the eye chart, the worse the vision (or visual acuity). The study eye was defined as the eye that met inclusion/exclusion criteria with the worst standard BCVA. If the BCVA in both eyes was similar the Patient determines the worse eye be selected as the study eye. A positive change from baseline indicates an improvement and a negative change from baseline indicates a worsening.'}], 'secondaryOutcomes': [{'measure': 'Change in Retinal Macular Autofluorescence From Baseline', 'timeFrame': '12 and 24 months', 'description': 'Measured in mm\\^2 by Fundus Autofluorescence and shows changes in the integrity and metabolism of retinal cells. A negative change from baseline indicates a decrease in size of the retained retina (worsening; disease progression).'}, {'measure': 'Changes in Microperimetry From Baseline', 'timeFrame': 'Baseline to 24 months', 'description': 'Microperimetry assessments. A negative change from baseline indicates disease worsening.'}, {'measure': 'Number of Participants Who Experience an Adverse Event', 'timeFrame': '24 months', 'description': 'Adverse events during treatment and follow-up period'}]}, 'oversightModule': {'oversightHasDmc': True}, 'conditionsModule': {'keywords': ['choroideremia, gene therapy'], 'conditions': ['Choroideremia']}, 'referencesModule': {'references': [{'pmid': '30194931', 'type': 'DERIVED', 'citation': 'Davis JL. The Blunt End: Surgical Challenges of Gene Therapy for Inherited Retinal Diseases. Am J Ophthalmol. 2018 Dec;196:xxv-xxix. doi: 10.1016/j.ajo.2018.08.038. Epub 2018 Sep 5.'}]}, 'descriptionModule': {'briefSummary': 'Phase II gene therapy study, involving a total of 6 male patients with choroideremia. The study will be conducted at the Bascom Palmer Eye Institute, University of Miami. Patients will be required to attend a total of 11 study visits over a 24 month period with an additional 3 year follow-up.', 'detailedDescription': 'This is a Phase II, open label study involving patients with a clinical phenotype of choroideremia and a confirmed CHM genotype. Following consent, patients will be required to attend an initial screening visit (Visit 1). Within 2 weeks of the screening visit patients will undergo a surgical procedure (Visit 2) under general anesthesia which will include a standard vitrectomy, retinal detachment and administration of a subretinal injection of AAV2-REP1 (1x1011 genome particles). Patients will be required to attend a further 9 study visits (Visits 3-11) over a 24 month period for functional, and anatomical assessments as well as monitoring of adverse events. The primary endpoint is the change from baseline in visual acuity in the study eye, compared to control eye. Secondary study endpoints are, change from baseline in autofluorescence evaluation, microperimetry readings and other anatomic and functional outcomes (all in the study eye compared to control eye). Secondary endpoints also include safety assessments to be conducted throughout the study. The fellow eyes of these patients will be utilized as controls in this study and will receive no study treatment.'}, 'eligibilityModule': {'sex': 'MALE', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* 18 Years and older\n* Male\n* Able to give informed consent\n* Genetically confirmed diagnosis of choroideremia\n* Active disease visible clinically within the macula region\n* Best-corrected visual acuity equal to or worse than 20/32 but better than or equal to 20/200 in the study eye.\n\nExclusion Criteria:\n\n* Female\n* Under the age of 18\n* History of amblyopia in the study eye\n* Men unwilling to use barrier contraception methods\n* Relevant grossly asymmetrical disease or other ocular morbidity which might confound use of the fellow eye as a long-term control\n* Any other significant ocular and non-ocular disease/disorder or retinal surgery\n* Contraindication to use of medications or contrast agents\n* Participated in research study involving an investigational product in the past 12 weeks\n* Having had gene or cellular therapy at any time prior to this study.'}, 'identificationModule': {'nctId': 'NCT02553135', 'briefTitle': 'Choroideremia Gene Therapy Clinical Trial', 'organization': {'class': 'OTHER', 'fullName': 'University of Miami'}, 'officialTitle': 'An Open Label Phase 2 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1)', 'orgStudyIdInfo': {'id': '20150371'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Injection of AAV2-REP1', 'description': 'Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL.', 'interventionNames': ['Biological: Injection of AAV2-REP1 (10e11 vg)']}], 'interventions': [{'name': 'Injection of AAV2-REP1 (10e11 vg)', 'type': 'BIOLOGICAL', 'description': 'Single Group: single arm study', 'armGroupLabels': ['Injection of AAV2-REP1']}]}, 'contactsLocationsModule': {'locations': [{'zip': '33136', 'city': 'Miami', 'state': 'Florida', 'country': 'United States', 'facility': 'Bascom Palmer Eye Institute, University of Miami', 'geoPoint': {'lat': 25.77427, 'lon': -80.19366}}], 'overallOfficials': [{'name': 'BYRON LAM, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'UNIVERSITY OF MIAMI, BASCOM PALMER EYE INSTITUTE'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Byron Lam', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR_INVESTIGATOR', 'investigatorTitle': 'Professor of Ophthalmology', 'investigatorFullName': 'Byron Lam', 'investigatorAffiliation': 'University of Miami'}}}}