Ignite Creation Date:
2025-12-25 @ 3:20 AM
Ignite Modification Date:
2026-02-25 @ 5:51 PM
Study NCT ID:
NCT04126005
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-06-22
First Post:
2019-10-10
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Natural History Study of Patients With Canavan Disease (CANinform Study)
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D017825', 'term': 'Canavan Disease'}, {'id': 'D035583', 'term': 'Rare Diseases'}, {'id': 'D056784', 'term': 'Leukoencephalopathies'}], 'ancestors': [{'id': 'D020279', 'term': 'Hereditary Central Nervous System Demyelinating Diseases'}, {'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': 'D003711', 'term': 'Demyelinating Diseases'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Hematology, blood chemistry, urinalysis, genetic mutation confirmation, antibody testing'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 70}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2019-10-10', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-10', 'completionDateStruct': {'date': '2025-07-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-06-18', 'studyFirstSubmitDate': '2019-10-10', 'studyFirstSubmitQcDate': '2019-10-11', 'lastUpdatePostDateStruct': {'date': '2025-06-22', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2019-10-14', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-05-21', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'To characterize the natural history of Canavan disease', 'timeFrame': 'approximately 3 years', 'description': 'To enhance the understanding of the natural history of Canavan disease through retrospective data collection from patient medical records and prospective data collection from living patients, including: phenotypic characteristics and variability, genotype characteristics and variability, and disease progression and natural history.'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Canavan Disease', 'AAV', 'AAV9', 'Gene therapy', 'Aspartoacylase', 'ASPA', 'ASPA gene', 'rAAV9', 'ACY2', 'Aminoacylase 2', 'Spongy degeneration', 'N-acetyl-L-aspartic acid (NAA)', 'N-acetylaspartate', 'Rare disease', 'Inherited Metabolic Disorders', 'Leukodystrophy', 'Leukoencephalopathies', 'Autosomal Recessive Disorder', 'Neurodevelopmental diseases', 'CANinform Study'], 'conditions': ['Canavan Disease']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'http://aspatx.com', 'label': 'Aspa Therapeutics Company Website'}, {'url': 'http://treatcanavan.com', 'label': 'CANinform Study Website'}]}, 'descriptionModule': {'briefSummary': 'This study uses medical records that allow retrospective data extraction of critical milestone and motor function data. In addition, prospective assessments collect data relevant to the natural history of Canavan disease in children.', 'detailedDescription': 'The CANinform natural history study is the first multinational effort to rigorously gather both retrospective and prospective data from this patient population. Data collection includes extraction of retrospective data from medical records of living and deceased patients, and collection of prospective, longitudinal data from living patients and their parent(s)/caregiver(s). Motor function assessments are performed remotely in the home via video or in the clinic by qualified study team members. Families will be invited to attend clinic visits and/or will be followed remotely by the clinical site for approximately 3 years.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Living and deceased patients with Canavan disease', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n1. Meet age criteria of a specific cohort.\n2. Confirmed clinical and biochemical diagnosis of Canavan disease.\n3. Available medical records since birth that permit documentation of disease characteristics and developmental milestones.\n4. Parent and/or legal guardian is able to read, understand, and sign the informed consent.\n\nExclusion Criteria:\n\n1\\. Patient does not meet the Inclusion Criteria.'}, 'identificationModule': {'nctId': 'NCT04126005', 'briefTitle': 'Natural History Study of Patients With Canavan Disease (CANinform Study)', 'organization': {'class': 'INDUSTRY', 'fullName': 'Aspa Therapeutics'}, 'officialTitle': 'A Combination Retrospective Medical History and Prospective Observational Study of Patients With Canavan Disease for Assessment of Natural History of Canavan Disease', 'orgStudyIdInfo': {'id': 'CVN-101'}, 'secondaryIdInfos': [{'id': 'CANinform', 'type': 'OTHER', 'domain': 'Aspa Therapeutics'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Cohort 1 (Age < 18 Months)', 'description': '* Motor function assessments (remote or in-clinic) every 2 months\n* Clinic assessments every 6 months'}, {'label': 'Cohort 2 (Age ≥ 18 Months - 3 Years)', 'description': '* Motor function assessments (remote or in-clinic) every 4 months\n* Clinic assessments every 6 months'}, {'label': 'Cohort 3 (Age > 3 - 5 Years)', 'description': '* Motor function assessments (remote or in-clinic) every 6 months\n* Clinic assessments every 6 months'}, {'label': 'Cohort 4 (Age > 5 Years)', 'description': '* Motor function assessments (remote or in-clinic) 12 months\n* Clinic assessments every 12 months'}, {'label': 'Cohort 5 (Deceased)', 'description': "• The patient's medical history records will be reviewed. In addition, a parent interview will be performed."}]}, 'contactsLocationsModule': {'locations': [{'zip': '94609', 'city': 'Oakland', 'state': 'California', 'country': 'United States', 'facility': "UCSF Benioff Children's Hospital Oakland", 'geoPoint': {'lat': 37.80437, 'lon': -122.2708}}, {'zip': '02114', 'city': 'Boston', 'state': 'Massachusetts', 'country': 'United States', 'facility': 'Massachusetts General Hospital', 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}, {'zip': '20246', 'city': 'Hamburg', 'country': 'Germany', 'facility': 'University Medical Center Hamburg-Eppendorf', 'geoPoint': {'lat': 53.55073, 'lon': 9.99302}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'YES', 'description': 'Data will be made available for researchers using a defined process.'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Aspa Therapeutics', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}