Ignite Creation Date:
2025-12-25 @ 2:27 AM
Ignite Modification Date:
2026-01-01 @ 6:38 AM
Study NCT ID:
NCT04591834
Status:
WITHDRAWN
Last Update Posted:
2022-10-10
First Post:
2020-09-23
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Mucopolysaccharidosis Type II Observational
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D016532', 'term': 'Mucopolysaccharidosis II'}, {'id': 'D013398', 'term': 'Sudden Infant Death'}], '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': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D009083', 'term': 'Mucopolysaccharidoses'}, {'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D017520', 'term': 'Mucinoses'}, {'id': 'D003240', 'term': 'Connective Tissue Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D003645', 'term': 'Death, Sudden'}, {'id': 'D003643', 'term': 'Death'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D066088', 'term': 'Infant Death'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D057832', 'term': 'Watchful Waiting'}], 'ancestors': [{'id': 'D017063', 'term': 'Outcome Assessment, Health Care'}, {'id': 'D010043', 'term': 'Outcome and Process Assessment, Health Care'}, {'id': 'D011787', 'term': 'Quality of Health Care'}, {'id': 'D006298', 'term': 'Health Services Administration'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'OTHER'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 0}, 'patientRegistry': False}, 'statusModule': {'whyStopped': 'Sponsor decision', 'overallStatus': 'WITHDRAWN', 'startDateStruct': {'date': '2022-03', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2022-10', 'completionDateStruct': {'date': '2025-07', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2022-10-06', 'studyFirstSubmitDate': '2020-09-23', 'studyFirstSubmitQcDate': '2020-10-12', 'lastUpdatePostDateStruct': {'date': '2022-10-10', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2020-10-19', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-07', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Changes in neurodevelopmental parameters of cognitive function over time', 'timeFrame': '104 weeks', 'description': 'Bayley Scales of Infant and Toddler Development Third Edition (BSID-III)'}, {'measure': 'Changes in neurodevelopmental parameters of cognitive function over time', 'timeFrame': '104 weeks', 'description': 'Mullen Scales of Early Learning (MSEL) Visual Reception Domain'}, {'measure': 'Changes in neurodevelopmental parameters of adaptive behavior function over time', 'timeFrame': '104 weeks', 'description': 'Vineland Adaptive Behavior Scales Second Edition (VABS-II)'}], 'secondaryOutcomes': [{'measure': 'Changes in disease-specific biomarkers over time', 'timeFrame': '104 weeks', 'description': 'I2S activity'}, {'measure': 'Changes in disease-specific biomarkers over time', 'timeFrame': '104 weeks', 'description': 'GAGs'}, {'measure': 'Changes in quality of life', 'timeFrame': '104 weeks', 'description': 'PedsQL'}, {'measure': 'Changes in quality of life', 'timeFrame': '104 weeks', 'description': 'ADL'}, {'measure': 'Changes in Caregiver reported outcome', 'timeFrame': '104 weeks', 'description': 'Family Burden of Illness Survey'}, {'measure': 'Changes in sleep', 'timeFrame': '104 weeks', 'description': 'SDSC'}]}, 'oversightModule': {'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['MPS II', 'Gene Therapy', 'Hunter'], 'conditions': ['Mucopolysaccharidosis II']}, 'descriptionModule': {'briefSummary': 'This is an observational study planned to document prospectively disease manifestation and neurocognitive course in pediatric patients with a clinical presentation consistent with neuronopathic ("severe") MPS II undergoing current standard of care and/or intrathecal Elaprase® for their condition. Some patients may be offered the opportunity to screen for a gene therapy study conducted by the same sponsor.', 'detailedDescription': 'MPS II is a rare X-linked recessive genetic disease caused by mutations in the iduronate-2-sulfatase gene (IDS). Enzyme replacement therapy (ERT) with recombinant idursulfase (ELAPRASE®) is the only approved product for the treatment of Hunter syndrome; however, ERT as currently administered does not cross the blood brain barrier and is therefore unable to address the unmet need in MPS II patients with CNS (neurocognition and behavior) involvement. This is an observational study to document prospectively disease manifestation and neurocognitive course in pediatric patients with a clinical presentation consistent with neuronopathic ("severe") MPS II undergoing current standard of care for their condition. Approximately forty pediatric subjects who have severe MPS II will be enrolled. Changes in neurodevelopmental parameters of cognitive, behavioral, and adaptive function over time will be the primary focus for a duration of 104 weeks.'}, 'eligibilityModule': {'sex': 'MALE', 'stdAges': ['CHILD'], 'maximumAge': '8 Years', 'minimumAge': '1 Month', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Up to 40 subjects ages 1 month to 8 years of age who have documented neurocognitive deficits due to MPS II or who have a genotype and family history consistent with an inherited form of severe MPS II will be invited to participate.', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n1. Meets any of the following criteria:\n\n 1. Has a clinical diagnosis of severe MPS II and has a documented mutation in IDS, OR\n 2. Has a relative clinically diagnosed with severe MPS II who has the same IDS mutation as the subject, OR\n 3. Has documented mutation(s) in IDS that in the opinion of the investigator is known to result in a neuronopathic phenotype\n2. Has sufficient communication capacity to complete the required protocol testing\n\nPatient's legal guardian must be willing and able to provide written, signed informed consent.\n\nExclusion Criteria:\n\n1. Has had prior treatment with an AAV-based gene therapy product\n2. Is currently participating in a clinical trial of an investigational product for the treatment of MPS II with the exception of IT ELAPRASE trials; no investigational product may be taken starting 30 days or 5 half-lives of the investigational product prior to signing the ICF, whichever is longer"}, 'identificationModule': {'nctId': 'NCT04591834', 'briefTitle': 'Mucopolysaccharidosis Type II Observational', 'organization': {'class': 'INDUSTRY', 'fullName': 'REGENXBIO Inc.'}, 'officialTitle': 'A Prospective, Observational Study of Pediatric Patients With Neuronopathic Forms of MPS II (Hunter Syndrome)', 'orgStudyIdInfo': {'id': 'RGX-121-9101'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Observational', 'description': 'No Intervention', 'interventionNames': ['Other: Observational']}], 'interventions': [{'name': 'Observational', 'type': 'OTHER', 'description': 'An observational study in subjects with the severe form of MPS II.', 'armGroupLabels': ['Observational']}]}, 'contactsLocationsModule': {'locations': [{'zip': '94609', 'city': 'Oakland', 'state': 'California', 'country': 'United States', 'facility': "University of California San Francisco, Benioff Children's Hospital", 'geoPoint': {'lat': 37.80437, 'lon': -122.2708}}, {'zip': '19104', 'city': 'Philadelphia', 'state': 'Pennsylvania', 'country': 'United States', 'facility': "Children's Hospital of Philadelphia", 'geoPoint': {'lat': 39.95238, 'lon': -75.16362}}, {'zip': 'H4A 3J1', 'city': 'Montreal', 'state': 'Quebec', 'country': 'Canada', 'facility': 'McGill University Health Center', 'geoPoint': {'lat': 45.50884, 'lon': -73.58781}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'REGENXBIO Inc.', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}