Ignite Creation Date:
2025-12-24 @ 11:45 PM
Ignite Modification Date:
2025-12-25 @ 9:38 PM
Study NCT ID:
NCT05755451
Status:
RECRUITING
Last Update Posted:
2023-03-06
First Post:
2023-02-08
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Natural History of SMA
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': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 1200}, 'targetDuration': '15 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2018-06-21', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-02', 'completionDateStruct': {'date': '2033-12-30', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2023-03-02', 'studyFirstSubmitDate': '2023-02-08', 'studyFirstSubmitQcDate': '2023-03-02', 'lastUpdatePostDateStruct': {'date': '2023-03-06', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-03-06', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2033-12-30', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'motor function', 'timeFrame': '15 years', 'description': 'functional scales Hammersmith Functional motor scale, (minimum score 0, maximum score 74 indicating best performance'}], 'secondaryOutcomes': [{'measure': 'respiratory function', 'timeFrame': '15 years', 'description': 'Forced Vital Capacity, need for ventilatory support'}, {'measure': 'nutrition', 'timeFrame': '15 years', 'description': 'need for nutritional support using Oral and Swallowing Abilities Tool (OrSAT) with a minimum score of 0 and a maximum score of 12 indicating best performance'}]}, 'oversightModule': {'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['natural history', 'spinal muscular atrophy'], 'conditions': ['Muscular Atrophy, Spinal']}, 'descriptionModule': {'briefSummary': 'This is an investigator initiated observational study with the aim to record several aspects of function, care and adverse events in a large cohort of SMA patients followed longitudinally by using a structured academic disease registry.', 'detailedDescription': 'This is an observational multicenter retrospective and prospective study involving high quality data collected in 5 academic centers in Italy, the registry aims to\n\n* better understand the natural history of the disease in untreated patients identifying factors that can influence disease progression by combining retrospective and prospective data.\n* Describe the patterns of disease progression (in terms of functional measure, adverse events, levels of care, and hospitalization) in treated and untreated patients\n* Identify all the patients treated with the available therapies in Italy, providing first line details on epidemiological data in a wider network including all centers recognized as centers for spinal muscular atrophy (SMA) in each region.\n\nAs part of the activity clinical evaluators, data manager and sub-investigators are also trained and use common manuals of operation to ensure reliability across the participating centers. The registry provides accurate and reliable information on natural history including results from currently used functional measures. The registry also includes information on supportive care, hospitalization and adverse events.\n\nDetails of the electronic clinical file record including data assembly and the platform used are available as part of a peer reviewed paper'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'all pèatients with mutations in the SMN1 gene', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\nall patients\n\nExclusion Criteria:\n\nif enrolled in clinical trials'}, 'identificationModule': {'nctId': 'NCT05755451', 'acronym': 'iSMAR', 'briefTitle': 'Natural History of SMA', 'organization': {'class': 'OTHER', 'fullName': 'Fondazione Policlinico Universitario Agostino Gemelli IRCCS'}, 'officialTitle': 'Natural History of SMA: Long Term Longitudinal Study and Development of a Registry', 'orgStudyIdInfo': {'id': '1894'}}, 'contactsLocationsModule': {'locations': [{'city': 'Genova', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Claudio Bruno', 'role': 'CONTACT'}], 'facility': 'Istituto Gaslini', 'geoPoint': {'lat': 45.21604, 'lon': 11.87211}}, {'city': 'Messina', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Sonia Messina', 'role': 'CONTACT'}], 'facility': 'Nemo Sud', 'geoPoint': {'lat': 38.19394, 'lon': 15.55256}}, {'city': 'Milan', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Valeria Sansone', 'role': 'CONTACT'}], 'facility': 'Centro Clinico nemo', 'geoPoint': {'lat': 42.78235, 'lon': 12.59836}}, {'city': 'Rome', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': "Adele D'Amico", 'role': 'CONTACT'}], 'facility': 'Ospedale Bambino gesu', 'geoPoint': {'lat': 41.89193, 'lon': 12.51133}}, {'city': 'Rome', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Eugenio Mercuri', 'role': 'CONTACT', 'email': 'eugeniomaria.mercuri@policlinicogemelli.it', 'phone': '063015', 'phoneExt': '5340'}], 'facility': 'Policlinico gemelli', 'geoPoint': {'lat': 41.89193, 'lon': 12.51133}}], 'centralContacts': [{'name': 'Eugenio Mercuri, MD', 'role': 'CONTACT', 'email': 'eugeniomaria.mercuri@policlinicogemelli.it', 'phone': '06 3015', 'phoneExt': '5340'}, {'name': 'Marika Pane, MD', 'role': 'CONTACT', 'email': 'marika.pane@policlinicogemelli.it', 'phone': '063015', 'phoneExt': '6742'}], 'overallOfficials': [{'name': 'Eugenio Mercuri, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'F Policlinico Gemelli IRCCS'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO', 'description': 'aggregate data only'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Fondazione Policlinico Universitario Agostino Gemelli IRCCS', 'class': 'OTHER'}, 'collaborators': [{'name': 'University of Milan', 'class': 'OTHER'}, {'name': 'Istituto Giannina Gaslini', 'class': 'OTHER'}, {'name': 'Ospedale Pediatrico Bambin Gesù', 'class': 'OTHER'}, {'name': 'University of Messina', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}