Ignite Creation Date:
2025-12-24 @ 3:25 PM
Ignite Modification Date:
2026-01-06 @ 6:23 PM
Study NCT ID:
NCT04587492
Status:
COMPLETED
Last Update Posted:
2022-11-10
First Post:
2020-10-07
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Metabolomics of Children With 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'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'C000590926', 'term': 'nusinersen'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITHOUT_DNA', 'description': 'Cerebrospinal fluid, serum, urine'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 35}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2017-01-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2022-11', 'completionDateStruct': {'date': '2020-09-30', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2022-11-04', 'studyFirstSubmitDate': '2020-10-07', 'studyFirstSubmitQcDate': '2020-10-07', 'lastUpdatePostDateStruct': {'date': '2022-11-10', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2020-10-14', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2020-09-30', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Metabolomic difference from healthy children', 'timeFrame': 'Beginning of study', 'description': 'Metabolomic difference between children with SMA and healthy children'}, {'measure': 'Metabolomic change before and after treatment', 'timeFrame': 'At least 14 months of treatment', 'description': 'Metabolomic change in children with SMA before and after treatment with nusinersen'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': True, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Spinal Muscular Atrophy, nusinersen, metabolome'], 'conditions': ['Spinal Muscular Atrophy']}, 'descriptionModule': {'briefSummary': 'The aim of the proposed project is to evaluate whether the metabolome of patients with spinal muscular atrophy (SMA) before the initiation of treatment with nusinersen differs from the metabolome of healthy individuals and whether it changes 14 months after treatment with nusinersen.', 'detailedDescription': 'Spinal muscular atrophy (SMA) is a severe, debilitating disease and is an important source of morbidity and mortality of children. Novel disease modifying therapies can alter the natural course of the disease. However, many aspects of their action remain unknown. Metabolomics is the large-scale study of metabolites, within cells, biofluids, tissues or organisms. Collectively, these small molecules and their interactions within a biological system are known as the metabolome.\n\nThe aim of this study is to evaluate whether the metabolome of patients with SMA before the initiation of disease modifying therapy with nusinersen differs from the metabolome of healthy individuals. Next, we would like to asses whether tretament with nusinersen alters the metabolome of patients with SMA. Utilizing metabolomics, we would like to assess whether we can identify parameters reflecting the state of the disease in a particular patient, and parameters with diagnostic and/or prognostic value. Using metabolomics, we will aim to identify SMA patients that will positively respond to gene therapy.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '21 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Children with genetically diagnosed SMA', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Genetically confirmed SMA\n* Age up to 21 years\n\nExclusion Criteria:\n\n* None'}, 'identificationModule': {'nctId': 'NCT04587492', 'briefTitle': 'Metabolomics of Children With SMA', 'organization': {'class': 'OTHER', 'fullName': 'University Medical Centre Ljubljana'}, 'officialTitle': 'Metabolome of Children With Spinal Muscular Atrophy Treated With Nusinersen', 'orgStudyIdInfo': {'id': '0120-305/2018/11'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Children with SMA', 'description': 'All children with SMA are eligible for the study', 'interventionNames': ['Drug: Nusinersen']}], 'interventions': [{'name': 'Nusinersen', 'type': 'DRUG', 'description': 'Treatment with nusinersen', 'armGroupLabels': ['Children with SMA']}]}, 'contactsLocationsModule': {'locations': [{'city': 'Ljubljana', 'country': 'Slovenia', 'facility': 'Biotechnical faculty', 'geoPoint': {'lat': 46.05108, 'lon': 14.50513}}, {'city': 'Ljubljana', 'country': 'Slovenia', 'facility': 'University Medical Centre Ljubljana', 'geoPoint': {'lat': 46.05108, 'lon': 14.50513}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Medical Centre Ljubljana', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Associate Professor in Pediatrics', 'investigatorFullName': 'Damjan Osredkar', 'investigatorAffiliation': 'University Medical Centre Ljubljana'}}}}