Ignite Creation Date:
2025-12-24 @ 11:50 PM
Ignite Modification Date:
2026-01-03 @ 3:12 PM
Study NCT ID:
NCT05225051
Status:
UNKNOWN
Last Update Posted:
2022-03-09
First Post:
2022-01-11
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
N- Homocysteinylated Huntingtin in Huntington's Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006816', 'term': 'Huntington Disease'}, {'id': 'C566403', 'term': 'Homocysteinemia'}], 'ancestors': [{'id': 'D001480', 'term': 'Basal Ganglia Diseases'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D003704', 'term': 'Dementia'}, {'id': 'D002819', 'term': 'Chorea'}, {'id': 'D020820', 'term': 'Dyskinesias'}, {'id': 'D009069', 'term': 'Movement Disorders'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D003072', 'term': 'Cognition Disorders'}, {'id': 'D019965', 'term': 'Neurocognitive Disorders'}, {'id': 'D001523', 'term': 'Mental Disorders'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NON_RANDOMIZED', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'BASIC_SCIENCE', 'interventionModel': 'FACTORIAL'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 32}}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2022-04-01', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2022-03', 'completionDateStruct': {'date': '2023-05-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2022-03-08', 'studyFirstSubmitDate': '2022-01-11', 'studyFirstSubmitQcDate': '2022-01-25', 'lastUpdatePostDateStruct': {'date': '2022-03-09', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2022-02-04', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2023-05-01', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Huntingtin homocysteinylated level', 'timeFrame': 'Through study completion, an average of 2 years', 'description': 'measures the interaction between Homocysteine and Huntingtin in fibroblasts'}], 'secondaryOutcomes': [{'measure': 'Blood levels of B9, B12', 'timeFrame': 'Through study completion, an average of 2 years', 'description': 'Blood levels of B9, B12'}, {'measure': 'Blood levels of homocysteinemia', 'timeFrame': 'Through study completion, an average of 2 years', 'description': 'Blood levels of homocysteinemia'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['homocysteinemia'], 'conditions': ['Huntington Disease']}, 'referencesModule': {'references': [{'pmid': '27534418', 'type': 'RESULT', 'citation': 'Geoffroy A, Kerek R, Pourie G, Helle D, Gueant JL, Daval JL, Bossenmeyer-Pourie C. Late Maternal Folate Supplementation Rescues from Methyl Donor Deficiency-Associated Brain Defects by Restoring Let-7 and miR-34 Pathways. Mol Neurobiol. 2017 Sep;54(7):5017-5033. doi: 10.1007/s12035-016-0035-8. Epub 2016 Aug 17.'}, {'pmid': '30734924', 'type': 'RESULT', 'citation': "Bossenmeyer-Pourie C, Smith AD, Lehmann S, Deramecourt V, Sablonniere B, Camadro JM, Pourie G, Kerek R, Helle D, Umoret R, Gueant-Rodriguez RM, Rigau V, Gabelle A, Sequeira JM, Quadros EV, Daval JL, Gueant JL. N-homocysteinylation of tau and MAP1 is increased in autopsy specimens of Alzheimer's disease and vascular dementia. J Pathol. 2019 Jul;248(3):291-303. doi: 10.1002/path.5254. Epub 2019 Mar 19."}]}, 'descriptionModule': {'briefSummary': 'Descriptive analysis of N- homocysteinylated Huntingtin in 3 groups of human fibroblasts:\n\n1. presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin),\n2. symptomatic HD individuals with motor UHDRS \\> 5 (Mutated Huntingtin)\n3. human control cell lines, unmutated Huntingtin', 'detailedDescription': 'Prospective inclusions of 32 subjects with 24 symptomatic HD patients and 8 presymptomatic HD patients.Rationale: This is a pilot study in humans. Over a period of 2 years, the potential recruitment should make it possible to include 32 patients This number will make it possible to calculate the overall variability of the dosage and to have statistics of position and dispersion in the 2 subgroups identified.\n\nControls: Eight standardized cell lines from human fibroblasts'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n* Patient with the symptomatic or presymptomatic Huntington's disease gene (CAG \\>= 36)\n* Molecularly confirmed Huntington's disease\n* Patient 18 years of age and older\n* Person affiliated to or benefiting from a social security assurance\n\nExclusion Criteria:\n\n* Person deprived of liberty by a judicial or administrative decision, persons subject to psychiatric care pursuant to Articles L. 3212-1 and L. 3213-1\n* Pregnant woman, parturient or nursing mother\n* Women of childbearing potential who do not have effective contraception\n* Intellectual deterioration preventing the understanding of research"}, 'identificationModule': {'nctId': 'NCT05225051', 'acronym': 'HO-HD', 'briefTitle': "N- Homocysteinylated Huntingtin in Huntington's Disease", 'organization': {'class': 'OTHER', 'fullName': 'Central Hospital, Nancy, France'}, 'officialTitle': "N-homocysteinylated Huntingtin in Huntington's Disease", 'orgStudyIdInfo': {'id': '2021-A00407-34'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin)', 'description': 'presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin)', 'interventionNames': ['Other: skin biopsy']}, {'type': 'EXPERIMENTAL', 'label': 'symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin)', 'description': 'symptomatic HD individuals with motor UHDRS \\> 5 (Mutated Huntingtin)', 'interventionNames': ['Other: skin biopsy']}, {'type': 'EXPERIMENTAL', 'label': 'human control cell lines, Unmutated Huntingtin', 'description': 'human control cell lines, Unmutated Huntingtin', 'interventionNames': ['Other: skin biopsy']}], 'interventions': [{'name': 'skin biopsy', 'type': 'OTHER', 'description': 'skin biopsy', 'armGroupLabels': ['human control cell lines, Unmutated Huntingtin', 'presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin)', 'symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin)']}]}, 'contactsLocationsModule': {'centralContacts': [{'name': 'Mathilde Renaud, MD, PhD', 'role': 'CONTACT', 'email': 'm.renaud2@chru-nancy.fr', 'phone': '03 83 15 36 22'}, {'name': 'Nathalie Keil', 'role': 'CONTACT', 'email': 'n.keil@chru-nancy.fr', 'phone': '03 83 15 52 79'}], 'overallOfficials': [{'name': 'Mathilde Renaud', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'CHRU Nancy'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Central Hospital, Nancy, France', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Principal Investigator', 'investigatorFullName': 'RENAUD Mathilde', 'investigatorAffiliation': 'Central Hospital, Nancy, France'}}}}