Ignite Creation Date:
2025-12-24 @ 10:44 PM
Ignite Modification Date:
2025-12-29 @ 1:52 AM
Study NCT ID:
NCT06096935
Status:
COMPLETED
Last Update Posted:
2025-03-14
First Post:
2023-10-16
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Exome Evaluation in Patients Living with Diabetes Complicated by Charcot Neuroarthropathy.
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D003924', 'term': 'Diabetes Mellitus, Type 2'}], 'ancestors': [{'id': 'D003920', 'term': 'Diabetes Mellitus'}, {'id': 'D044882', 'term': 'Glucose Metabolism Disorders'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D004700', 'term': 'Endocrine System Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Blood'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 40}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2024-07-11', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-03', 'completionDateStruct': {'date': '2025-01-18', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2025-03-12', 'studyFirstSubmitDate': '2023-10-16', 'studyFirstSubmitQcDate': '2023-10-20', 'lastUpdatePostDateStruct': {'date': '2025-03-14', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-10-24', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-01-18', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'exom', 'timeFrame': 'at day 0', 'description': 'Exome measurement at the time of inclusion (D0) via a differential statistical analysis of the "burden" type aimed at comparing the organization of the mutational load between the two study groups'}], 'secondaryOutcomes': [{'measure': 'exome variations', 'timeFrame': 'at day 0', 'description': 'Identification of "Group1" specific candidate variant(s)/gene(s)'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['type 2 Diabetes', 'CHARCOT neuroarthropathy', 'Exome'], 'conditions': ['Type 2 Diabetes']}, 'descriptionModule': {'briefSummary': "Diabetes, like obesity, has reached worldwide proportions such that we're talking about a pandemic. These two diseases are a major cause of mortality and multiple complications. The medical and financial stakes involved make these two diseases a major public health issue. Two groups of factors contribute to these diseases: the environment and genetics. The use of next-generation sequencing (NGS) is a highly relevant tool for identifying mutations in already known genes, or new genes involved in the disease, for diagnostic purposes. This approach makes it possible to validate previously described genes and/or discover new loci linked to new signalling pathways involved in the pathophysiology of Charcot's foot in patients with diabetes", 'detailedDescription': "In patients living with diabetes, a rare and devastating joint complication known as Charcot's neuroarthropathy (CN) has been observed. The clinical presentation of this complication is characterized by activation of inflammation and bone remodeling markers, disruption of the osteoblast and osteoclast system, activation of the RANKL (Receptor activator of nuclear factor-kappa B ligand) system and its antagonist osteoprotegerin (OPG), and often a fatigue fracture due to physical activity.\n\nThe pathogenic mechanisms of CN have been the subject of much debate, and there are a number of competing theories which are not necessarily exclusive.\n\nCN patients have been shown to have reduced bone density in the lower limbs compared with neuropathic subjects. Studies using bone markers to assess bone formation and resorption demonstrated that there is an increase in osteoclastic activity relative to osteoblastic activity in both acute and chronic forms of CN. In 2007, W.J. Jeffcoate described CN as an increased inflammatory response to injury inducing increased bone lysis. Since the emergence of this theory, a significant number of studies have evaluated inflammatory factors and bone modeling in patients with CN, such as C-reactive protein, TNF α and IL6. Three studies showed an increase in their levels in the setting of CN.\n\notherwise known genes, or new genes implicated in the disease, for diagnostic purposes This approach makes it possible to validate previously described genes and/or discover new loci linked to new signalling pathways involved in the pathophysiology of Charcot's foot in patients with diabetes."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '70 Years', 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patiens living with type 2 diabetes complicates by Charcot Neuroarthopathy', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Men or women aged 18 to 70\n* with type 2 diabetes for at least one year\n* with active or chronic Charcot neuroarthropathy (Group 1) OR\n* never had Charcot neuroarthropathy (Group 2)\n* Have agreed to participate in the study and have signed an informed consent form.\n\nExclusion Criteria:\n\n\\- Subject under guardianship or curatorship.'}, 'identificationModule': {'nctId': 'NCT06096935', 'acronym': 'CHARCOTEX', 'briefTitle': 'Exome Evaluation in Patients Living with Diabetes Complicated by Charcot Neuroarthropathy.', 'organization': {'class': 'OTHER', 'fullName': 'Centre Hospitalier Sud Francilien'}, 'officialTitle': 'Exome Evaluation in Patients Living with Diabetes Complicated by Charcot Neuroarthropathy.', 'orgStudyIdInfo': {'id': '2023/0025'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Group 1', 'description': 'patients with type 2 diabetes complicated by active or chronic Charcot neuropathy', 'interventionNames': ['Other: bood sample']}, {'label': 'Group 2', 'description': 'patients living with type 2 diabetes without active or chronic Charcot neuroarthropathy.', 'interventionNames': ['Other: bood sample']}], 'interventions': [{'name': 'bood sample', 'type': 'OTHER', 'description': 'Exome measurements', 'armGroupLabels': ['Group 1', 'Group 2']}]}, 'contactsLocationsModule': {'locations': [{'zip': '91106', 'city': 'Corbeil-Essonnes', 'state': 'France', 'country': 'France', 'facility': 'Centre Hospitalier Sud Francilien', 'geoPoint': {'lat': 48.60603, 'lon': 2.48757}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Centre Hospitalier Sud Francilien', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}