Ignite Creation Date:
2025-12-25 @ 12:29 AM
Ignite Modification Date:
2025-12-31 @ 11:12 PM
Study NCT ID:
NCT04480567
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2024-12-12
First Post:
2020-07-08
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
AAV Gene Therapy Study for Subjects with PKU
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D010661', 'term': 'Phenylketonurias'}], 'ancestors': [{'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D000592', 'term': 'Amino Acid Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'phases': ['PHASE1', 'PHASE2'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NON_RANDOMIZED', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'TREATMENT', 'interventionModel': 'SEQUENTIAL'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 100}}, 'statusModule': {'overallStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2020-09-24', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-12', 'completionDateStruct': {'date': '2027-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2024-12-09', 'studyFirstSubmitDate': '2020-07-08', 'studyFirstSubmitQcDate': '2020-07-20', 'lastUpdatePostDateStruct': {'date': '2024-12-12', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2020-07-21', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2027-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Change from baseline in mean Plasma Phe levels', 'timeFrame': 'baseline, week 12'}], 'secondaryOutcomes': [{'measure': 'Change from baseline in mean Plasma Phe levels', 'timeFrame': 'baseline, week 96'}, {'measure': 'Change from baseline in dietary protein intake from intact food', 'timeFrame': 'baseline, week 96'}, {'measure': 'Number of participants with treatment-emergent adverse event', 'timeFrame': 'At 5 years'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': True, 'isFdaRegulatedDrug': True, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['PKU', 'PAH Deficiency'], 'conditions': ['Phenylketonuria (PKU)']}, 'descriptionModule': {'briefSummary': 'This is a Phase 1/2, open-label, dose escalation study to evaluate the safety, efficacy and tolerability of BMN 307 in adult PKU subjects with PAH deficiency. Participants will receive a single administration of BMN 307 and will be followed for safety and efficacy.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '15 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Male and female subjects with diagnosis of PKU which is a condition characterized by PAH deficiency\n* Ability and willingness to maintain dietary protein intake consistent with baseline intake\n* Willingness to abstain from hepatotoxic substances post-BMN 307 administration\n* Willingness and capable per investigator opinion to comply with study procedures and requirements\n* Willingness to use effective methods of contraception\n* Plasma Phe levels \\> 600 µmol/L\n\nExclusion Criteria:\n\n* Subjects with primary BH4 deficiency or other forms of BH4 metabolism deficiency\n* Clinically significant liver dysfunction or disease\n* Prior treatment with gene therapy\n* Any condition that, in the opinion of the investigator or Sponsor, would prevent the subject from fully complying with the requirements of the study\n* History of malignancy'}, 'identificationModule': {'nctId': 'NCT04480567', 'briefTitle': 'AAV Gene Therapy Study for Subjects with PKU', 'organization': {'class': 'INDUSTRY', 'fullName': 'BioMarin Pharmaceutical'}, 'officialTitle': 'A Phase 1/2 Open-Label, Dose Escalation Study to Determine the Safety and Efficacy of BMN 307, an Adeno-Associated Virus Vector-Mediated Gene Transfer of Human Phenylalanine Hydroxylase in Subjects with Phenylketonuria', 'orgStudyIdInfo': {'id': '307-201'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Dose 1 of BMN 307', 'interventionNames': ['Drug: BMN 307']}, {'type': 'EXPERIMENTAL', 'label': 'Dose 2 of BMN 307', 'interventionNames': ['Drug: BMN 307']}, {'type': 'EXPERIMENTAL', 'label': 'Dose 3 of BMN 307', 'interventionNames': ['Drug: BMN 307']}], 'interventions': [{'name': 'BMN 307', 'type': 'DRUG', 'description': 'AAV Gene Therapy Infusion', 'armGroupLabels': ['Dose 1 of BMN 307', 'Dose 2 of BMN 307', 'Dose 3 of BMN 307']}]}, 'contactsLocationsModule': {'locations': [{'zip': '33606', 'city': 'Tampa', 'state': 'Florida', 'country': 'United States', 'facility': 'University of South Florida', 'geoPoint': {'lat': 27.94752, 'lon': -82.45843}}, {'zip': '07960', 'city': 'Morristown', 'state': 'New Jersey', 'country': 'United States', 'facility': 'Morristown Medical Center', 'geoPoint': {'lat': 40.79677, 'lon': -74.48154}}, {'zip': 'B15 2TH', 'city': 'Birmingham', 'country': 'United Kingdom', 'facility': 'University Hospital Birmingham NHS Foundation Trust', 'geoPoint': {'lat': 52.48142, 'lon': -1.89983}}], 'overallOfficials': [{'name': 'Medical Director, MD', 'role': 'STUDY_DIRECTOR', 'affiliation': 'BioMarin Pharmaceutical'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'BioMarin Pharmaceutical', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}