Ignite Creation Date:
2025-12-24 @ 10:19 PM
Ignite Modification Date:
2025-12-31 @ 8:38 AM
Study NCT ID:
NCT01970735
Status:
COMPLETED
Last Update Posted:
2023-11-14
First Post:
2013-10-23
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D020391', 'term': 'Muscular Dystrophy, Facioscapulohumeral'}], 'ancestors': [{'id': 'D009136', 'term': 'Muscular Dystrophies'}, {'id': 'D020966', 'term': 'Muscular Disorders, Atrophic'}, {'id': 'D009135', 'term': 'Muscular Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D006403', 'term': 'Hematologic Tests'}], 'ancestors': [{'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'BASIC_SCIENCE', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 103}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2013-10-30', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-11', 'completionDateStruct': {'date': '2014-12-16', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2023-11-10', 'studyFirstSubmitDate': '2013-10-23', 'studyFirstSubmitQcDate': '2013-10-23', 'lastUpdatePostDateStruct': {'date': '2023-11-14', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2013-10-28', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2014-12-16', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Muscle damage measure', 'timeFrame': 'One time at the inclusion'}, {'measure': 'Level of muscle damage', 'timeFrame': 'One time at the inclusion'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'conditions': ['Muscular Dystrophy, Facioscapulohumeral']}, 'referencesModule': {'references': [{'pmid': '30979860', 'type': 'DERIVED', 'citation': 'Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, van der Maarel SM. FSHD1 and FSHD2 form a disease continuum. Neurology. 2019 May 7;92(19):e2273-e2285. doi: 10.1212/WNL.0000000000007456. Epub 2019 Apr 12.'}]}, 'descriptionModule': {'briefSummary': 'The aim of the study was to compare the severity of illness between groups of patients (Facio-Scapulo-Humeral Dystrophy = FHSD1, FSHD2 and patients both FSHD1 and FSHD2).\n\nDespite advances in research on the subject, answers are still needed on these diseases.\n\nWe also aim to determine whether the chromosomal genetic abnormality is involved in other diseases and the frequency of this mutation in the population of patients FSHD.\n\nThis study will increase our knowledge of the two forms of FSHD who present a common pathophysiological mechanism and may occur together in the same family with a worsening of the clinical phenotype worsening . In addition, epigenetic differences between FSHD type 1 and type 2 seems to have clinical consequences requiring appropriate management'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '75 Years', 'minimumAge': '18 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* age ≥ 18 years and \\<75 years\n* FSHD patients 1 or 2 with or without genetic confirmation\n\nExclusion Criteria:\n\n\\- Patient with all conditions considered by the investigator interfering with the proper conduct of the study.'}, 'identificationModule': {'nctId': 'NCT01970735', 'briefTitle': 'Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2', 'organization': {'class': 'OTHER', 'fullName': 'Centre Hospitalier Universitaire de Nice'}, 'officialTitle': 'Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2', 'orgStudyIdInfo': {'id': '13-AOI-01'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'FSHD patient', 'interventionNames': ['Biological: Blood test']}], 'interventions': [{'name': 'Blood test', 'type': 'BIOLOGICAL', 'armGroupLabels': ['FSHD patient']}]}, 'contactsLocationsModule': {'locations': [{'zip': '06202', 'city': 'Nice', 'country': 'France', 'facility': 'Hôpital Archet 1', 'geoPoint': {'lat': 43.70313, 'lon': 7.26608}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Centre Hospitalier Universitaire de Nice', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}