Ignite Creation Date:
2025-12-25 @ 3:26 AM
Ignite Modification Date:
2026-02-22 @ 1:15 AM
Study NCT ID:
NCT02893605
Status:
COMPLETED
Last Update Posted:
2025-11-21
First Post:
2016-08-30
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Study of Gene Polymorphisms Involved in the Metabolism and Action of Vitamin D in Amyotrophic Lateral Sclerosis
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000690', 'term': 'Amyotrophic Lateral Sclerosis'}], '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': 'D057177', 'term': 'TDP-43 Proteinopathies'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D057165', 'term': 'Proteostasis Deficiencies'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 800}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2014-03'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2016-08', 'completionDateStruct': {'date': '2022-12-31', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2025-11-18', 'studyFirstSubmitDate': '2016-08-30', 'studyFirstSubmitQcDate': '2016-09-02', 'lastUpdatePostDateStruct': {'date': '2025-11-21', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2016-09-08', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2022-12-31', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'The polymorphisms occurring on a pre-defined set of genes', 'timeFrame': 'Day 0 (transversal study)', 'description': 'The genes studied are: CYP2R1, CYP27A1, CYP3A4, CYP2J2, CYP27B1, CYP24A1, VDBP, VDR.'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'conditions': ['Amyotrophic Lateral Sclerosis']}, 'referencesModule': {'references': [{'pmid': '27510420', 'type': 'RESULT', 'citation': 'Mouzat K, Raoul C, Polge A, Kantar J, Camu W, Lumbroso S. Liver X receptors: from cholesterol regulation to neuroprotection-a new barrier against neurodegeneration in amyotrophic lateral sclerosis? Cell Mol Life Sci. 2016 Oct;73(20):3801-8. doi: 10.1007/s00018-016-2330-y. Epub 2016 Aug 10.'}]}, 'descriptionModule': {'briefSummary': 'This is a case-control study performed on a biological collection. The polymorphisms present on a pre-defined list of genes will be studied for 400 Amyotrophic Lateral Sclerosis (sporadic type) DNA samples and 400 control DNA samples.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'A national biological (France) collection has been in existence since 1996 and serves as a source for patient and control samples. Patients have a sporadic form of Amyotrophic Lateral Sclerosis and controls are their spouses/partners.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* The primary inclusion criterium is the same for that of the parent biological collection, i.e. the patients fulfill requirements for probable or definite Amyotrophic Lateral Sclerosis as defined by revised international criteria (Brooks et al 2000).\n* Additionally, included patients were followed-up by doctors at the University Hospital of Montpellier, thus enabling verification of Amyotrophic Lateral Sclerosis criteria over time.\n\nExclusion Criteria:\n\n* The patient has a familial form of Amyotrophic Lateral Sclerosis (autosomic dominant or recessive types) with or without a mutation of one of the 3 genes known to be responsible for familial forms (SOD1, TARDBP, FUS). See Bender (1998).'}, 'identificationModule': {'nctId': 'NCT02893605', 'acronym': 'SLA_Vit_D', 'briefTitle': 'Study of Gene Polymorphisms Involved in the Metabolism and Action of Vitamin D in Amyotrophic Lateral Sclerosis', 'organization': {'class': 'OTHER', 'fullName': 'Centre Hospitalier Universitaire de Nīmes'}, 'officialTitle': 'Study of Gene Polymorphisms Involved in the Metabolism and Action of Vitamin D in Amyotrophic Lateral Sclerosis', 'orgStudyIdInfo': {'id': 'AOI/2014/KM-01'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Cases', 'description': 'Patients have a sporadic form of Amyotrophic Lateral Sclerosis.'}, {'label': 'Controls', 'description': 'Controls correspond to spouses/partners of patients.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '34295', 'city': 'Montpellier', 'country': 'France', 'facility': 'CHU de Montpellier - Hôpital Gui de Chauliac', 'geoPoint': {'lat': 43.61093, 'lon': 3.87635}}], 'overallOfficials': [{'name': 'Kevin Mouzat, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Centre Hospitalier Universitaire de Nîmes'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Centre Hospitalier Universitaire de Nīmes', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}