Ignite Creation Date:
2025-12-25 @ 2:39 AM
Ignite Modification Date:
2025-12-28 @ 12:15 AM
Study NCT ID:
NCT06092034
Status:
RECRUITING
Last Update Posted:
2025-10-07
First Post:
2023-10-11
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D052120', 'term': 'Glycogen Storage Disease Type IIb'}, {'id': 'D002312', 'term': 'Cardiomyopathy, Hypertrophic'}, {'id': 'D009202', 'term': 'Cardiomyopathies'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D017379', 'term': 'Hypertrophy, Left Ventricular'}], 'ancestors': [{'id': 'D038901', 'term': 'X-Linked Intellectual Disability'}, {'id': 'D008607', 'term': 'Intellectual Disability'}, {'id': 'D019954', 'term': 'Neurobehavioral Manifestations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D006008', 'term': 'Glycogen Storage Disease'}, {'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D001020', 'term': 'Aortic Stenosis, Subvalvular'}, {'id': 'D001024', 'term': 'Aortic Valve Stenosis'}, {'id': 'D000082862', 'term': 'Aortic Valve Disease'}, {'id': 'D006349', 'term': 'Heart Valve Diseases'}, {'id': 'D006332', 'term': 'Cardiomegaly'}, {'id': 'D006984', 'term': 'Hypertrophy'}, {'id': 'D020763', 'term': 'Pathological Conditions, Anatomical'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'phases': ['PHASE2'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'TREATMENT', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 14}}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2023-09-05', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-10', 'completionDateStruct': {'date': '2032-04', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-10-01', 'studyFirstSubmitDate': '2023-10-11', 'studyFirstSubmitQcDate': '2023-10-17', 'lastUpdatePostDateStruct': {'date': '2025-10-07', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2023-10-23', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2028-04', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Evaluation of efficacy via primary endpoint comprised of LAMP2 myocardial tissue expression and left ventricular mass index', 'timeFrame': '12 Months post-infusion', 'description': 'Increase of myocardial tissue expression of LAMP2 protein and decrease in left ventricular mass index (LVMI).'}], 'secondaryOutcomes': [{'measure': 'Evaluation of efficacy via components of the primary endpoint - LAMP2', 'timeFrame': '12 months post infusion', 'description': 'Increase in LAMP2 protein expression'}, {'measure': 'Evaluation of efficacy via components of the primary endpoint - Left Ventricular Mass Index (LVMI)', 'timeFrame': '12 months post infusion', 'description': 'Decrease in Left Ventricular Mass Index (LVMI)'}, {'measure': 'Evaluation of efficacy via biomarker evidence of myocardial injury - High Sensitivity Troponin I (hsTnI)', 'timeFrame': '12 months post infusion', 'description': 'Decrease in high sensitivity Troponin I (hsTnI)'}, {'measure': 'Evaluation of efficacy via biomarker evidence of myocardial injury - N-Terminal Prohormone of Brain Natriuretic Peptide (NT-proBNP)', 'timeFrame': '12 months post infusion', 'description': 'Decrease in N-terminal prohormone of brain natriuretic peptide (NT-proBNP)'}, {'measure': 'Evaluation of efficacy via assessment of event-free survival', 'timeFrame': '60 months post infusion', 'description': '1. Event free survival with events defined as death, heart transplant, mechanical circulatory support (MCS) or heart failure hospitalization\n2. Incidence of death, heart transplant, MCS, or heart failure hospitalization'}, {'measure': 'Evaluation of safety', 'timeFrame': '60 months post infusion', 'description': 'Incidence, severity and duration of treatment emergent safety events.'}]}, 'oversightModule': {'oversightHasDmc': True, 'isFdaRegulatedDrug': True, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Hypertrophic Cardiomyopathy', 'HCM', 'X-linked disease', 'LAMP2', 'Pediatric', 'Skeletal Myopathies', 'Cardiomyopathy', 'Lysosomal Storage Disorder', 'Left Ventricular Hypertrophy'], 'conditions': ['Danon Disease']}, 'descriptionModule': {'briefSummary': 'This is a single arm Phase 2 trial to evaluate the efficacy and safety of RP-A501, a recombinant adeno-associated virus serotype 9 (AAV9) containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B) transgene, in male patients with Danon Disease.', 'detailedDescription': 'The study is a single arm Phase 2 clinical trial to characterize the safety and efficacy of RP-A501, a recombinant adeno-associated serotype 9 (rAAV9 capsid containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B) transgene) in male patients with Danon Disease.\n\nMale subjects ≥8 years of age will receive a single intravenous infusion of RP-A501.'}, 'eligibilityModule': {'sex': 'MALE', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '8 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Key Inclusion Criteria:\n\n1. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene.\n2. Male.\n3. Age ≥8 years.\n4. Evidence of left ventricular hypertrophy with preserved systolic function phenotype as defined by each of the following:\n\n 1. Abnormal thickening of Left ventricular wall,\n 2. Left ventricular ejection fraction (LVEF) ≥ 50%.\n5. New York Heart Association (NYHA) Class II to III.\n6. High sensitivity Troponin I (hsTnI) ≥20% above the upper limit of normal (ULN)\n7. Ability to comply with study procedures including investigational therapy and follow-up evaluations.\n\nKey Exclusion Criteria:\n\n1. Anti-AAV9 neutralizing antibody titer \\>1:40.\n2. Severe heart failure or requirement for advanced therapies.\n3. History of intracardiac thrombosis or arterial thromboembolic events including stroke, transient ischemic attack (TIA), acute coronary syndrome, myocardial infarction or unstable angina.\n4. Prior cardiac or other organ (lung, liver, other) transplantation.'}, 'identificationModule': {'nctId': 'NCT06092034', 'briefTitle': 'A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease', 'organization': {'class': 'INDUSTRY', 'fullName': 'Rocket Pharmaceuticals Inc.'}, 'officialTitle': 'Gene Therapy for Danon Disease: A Phase 2 Study Evaluating the Efficacy and Safety of Intravenously Administered Adeno-Associated Virus Serotype 9 (rAAV9) Vector Containing the Human LAMP2 Isoform B Transgene (RP-A501; AAV9.LAMP2B) in Male Patients With Danon Disease', 'orgStudyIdInfo': {'id': 'RP-A501-0123'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'RP-A501', 'description': 'One planned dose of RP-A501 in cohorts of subjects with a confirmed diagnosis of Danon Disease.', 'interventionNames': ['Genetic: RP-A501']}], 'interventions': [{'name': 'RP-A501', 'type': 'GENETIC', 'description': 'RP-A501 is a gene therapy product consisting of a rAAV9 capsid containing the human LAMP2B transgene which will be administered as a single IV infusion.', 'armGroupLabels': ['RP-A501']}]}, 'contactsLocationsModule': {'locations': [{'zip': '92037', 'city': 'La Jolla', 'state': 'California', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Barry Greenberg, MD', 'role': 'CONTACT', 'email': 'Bgreenberg@health.ucsd.edu', 'phone': '858-246-2987'}], 'facility': 'University of California, San Diego', 'geoPoint': {'lat': 32.84727, 'lon': -117.2742}}, {'zip': '02115', 'city': 'Boston', 'state': 'Massachusetts', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Emily Morris', 'role': 'CONTACT', 'email': 'Emily.Morris@childrens.harvard.edu'}, {'name': 'Bridget Kerwin', 'role': 'CONTACT', 'email': 'BridgetO_Kerwin@DFCI.HARVARD.EDU'}, {'name': 'Dominic Abrams, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': "Boston Children's Hospital", 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}, {'zip': '19104', 'city': 'Philadelphia', 'state': 'Pennsylvania', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Joseph Rossano, MD', 'role': 'CONTACT', 'email': 'rossanoj@chop.edu'}], 'facility': "Children's Hospital of Philadelphia", 'geoPoint': {'lat': 39.95238, 'lon': -75.16362}}, {'city': 'Munich', 'status': 'RECRUITING', 'country': 'Germany', 'contacts': [{'name': 'Cordula Wolf, MD', 'role': 'CONTACT', 'email': 'wolf@dhm.mhn.de'}], 'facility': 'German Heart Center Munich', 'geoPoint': {'lat': 48.13743, 'lon': 11.57549}}, {'city': 'Florence', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Iacopo Olivotto, MD', 'role': 'CONTACT', 'email': 'iacopo.olivotto@unifi.it'}], 'facility': 'Meyer Childrens Hospital', 'geoPoint': {'lat': 43.77925, 'lon': 11.24626}}, {'city': 'London', 'status': 'RECRUITING', 'country': 'United Kingdom', 'contacts': [{'name': 'Juan Kaski, MD', 'role': 'CONTACT', 'email': 'Juan.Kaski@gosh.nhs.uk'}], 'facility': 'Great Ormund Street Hospital & UCL Institute of Cardiovascular Science', 'geoPoint': {'lat': 51.50853, 'lon': -0.12574}}], 'centralContacts': [{'name': 'Clinical Information', 'role': 'CONTACT', 'email': 'clinicaltrials@rocketpharma.com', 'phone': '646-627-0033'}], 'overallOfficials': [{'name': 'Joseph Rossano, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Children's Hospital of Philadelphia"}, {'name': 'Barry Greenberg, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University of California, San Diego'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Rocket Pharmaceuticals Inc.', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}