Ignite Creation Date:
2025-12-24 @ 11:10 PM
Ignite Modification Date:
2026-01-04 @ 3:22 PM
Study NCT ID:
NCT03300869
Status:
UNKNOWN
Last Update Posted:
2019-07-26
First Post:
2017-09-13
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Natural History of Types 2 and 3 SMA in Taiwan
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D009134', 'term': 'Muscular Atrophy, Spinal'}], 'ancestors': [{'id': 'D013118', 'term': 'Spinal Cord Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D016472', 'term': 'Motor Neuron Disease'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'OTHER'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 300}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2017-09-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2019-07', 'completionDateStruct': {'date': '2019-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2019-07-24', 'studyFirstSubmitDate': '2017-09-13', 'studyFirstSubmitQcDate': '2017-10-02', 'lastUpdatePostDateStruct': {'date': '2019-07-26', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2017-10-04', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2019-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Describe the correlation of genotype and phenotype in SMA types 2 and 3', 'timeFrame': 'through study completion, an average of 2 years', 'description': 'Genotype is defined by SMN 2 copy number(s) and phenotype is defined by clinical types and characteristics.'}], 'secondaryOutcomes': [{'measure': 'Disease onset in patients with SMA types 2 and 3', 'timeFrame': 'through study completion, an average of 2 years', 'description': 'Number of participants with disease onset as assessed by year'}, {'measure': 'Disease mortality in patients with SMA types 2 and 3', 'timeFrame': 'through study completion, an average of 2 years', 'description': 'Number of participants with disease mortality as assessed by year'}, {'measure': 'Scoliosis in patients with SMA types 2 and 3', 'timeFrame': 'through study completion, an average of 2 years', 'description': 'Number of participants with scoliosis as assessed by year'}, {'measure': 'BiPAP usage in patients with SMA types 2 and 3', 'timeFrame': 'through study completion, an average of 2 years', 'description': 'Number of participants with BiPAP usage as assessed by year'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Spinal Muscular Atrophy', 'Natural History'], 'conditions': ['Spinal Muscular Atrophy']}, 'descriptionModule': {'briefSummary': 'The primary objective of this study is to investigate the natural history of spinal muscular atrophy (SMA) types 2 and 3 patients in Taiwan. This study will provide further insights into the clinical course SMA. Several analyses will be conducted regarding overall survival, demographic characteristics, motor function, respiratory and nutritional support, and genotype and phenotype correlation.', 'detailedDescription': 'As with other rare diseases, individual groups of SMA have therefore opted to share patient information in the form of clinical sites to increase the overall patient cohorts on which clinical outcomes and new assisted-healthcare technologies can be assessed. Using the collaborative and retrospective study of types 2 and 3 SMA patients in Taiwan, the investigators aim to 1) characterize the correlation of genotype and phenotype, 2) correlate the onset, progression, management with disease outcome, 3) depict comorbidity and within type 2 and 3 SMA patients with different SMN2 copy number.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '70 Years', 'minimumAge': '6 Months', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'In the past decades, The SMA is a rare disease (incidence of 1 in every 6,000-10,000 live births) with a carrier frequency of about 1 in 40-50 people. Therefore, individual countries have small cohorts of affected patients.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n1. Patients are diagnosed with SMA types 2 or 3\n2. Generalized hypotonia and muscle weakness, weakness of the legs is greater than the arms, and the proximal part is weaker than distal part of extremities.\n3. SMN1 gene deletion or mutation and/or neurogenic changes in electromyogram and/or muscle pathology.\n\nExclusion Criteria:\n\n1. Non-5q SMA (no deletion or mutation of SMN1 gene) patients.\n2. Type 1 SMA patients.'}, 'identificationModule': {'nctId': 'NCT03300869', 'briefTitle': 'Natural History of Types 2 and 3 SMA in Taiwan', 'organization': {'class': 'OTHER', 'fullName': 'Kaohsiung Medical University Chung-Ho Memorial Hospital'}, 'officialTitle': 'Natural History of Types 2 and 3 Spinal Muscular Atrophy in Taiwan', 'orgStudyIdInfo': {'id': 'SMA_RV'}}, 'contactsLocationsModule': {'locations': [{'zip': '807', 'city': 'Kaohsiung City', 'status': 'RECRUITING', 'country': 'Taiwan', 'contacts': [{'name': 'Yun-Hui Chou', 'role': 'CONTACT', 'email': 'wendychoucrn@gmail.com', 'phone': '+886972977320'}, {'name': 'Yuh-Jyh Jong, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Kaohsiung Medical University Chung-Ho Memorial Hospital', 'geoPoint': {'lat': 22.61626, 'lon': 120.31333}}], 'centralContacts': [{'name': 'Yun-Hui Chou', 'role': 'CONTACT', 'email': 'wendychou3@gmail.com', 'phone': '+886972977320'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO', 'description': 'There is not a plan to make IPD available'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Kaohsiung Medical University Chung-Ho Memorial Hospital', 'class': 'OTHER'}, 'collaborators': [{'name': 'Biogen', 'class': 'INDUSTRY'}, {'name': 'National Taiwan University Hospital', 'class': 'OTHER'}, {'name': 'Mackay Memorial Hospital', 'class': 'OTHER'}, {'name': 'China Medical University Hospital', 'class': 'OTHER'}, {'name': 'Changhua Christian Hospital', 'class': 'OTHER'}, {'name': 'Chang Gung Memorial Hospital', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}