Ignite Creation Date:
2025-12-24 @ 9:58 PM
Ignite Modification Date:
2025-12-25 @ 7:36 PM
Study NCT ID:
NCT05956132
Status:
UNKNOWN
Last Update Posted:
2023-07-21
First Post:
2023-06-30
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Clinical and Biochemical Features for the Identification of Dominant Calpainopathies
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C535895', 'term': 'Limb-girdle muscular dystrophy type 2A'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D012189', 'term': 'Retrospective Studies'}], 'ancestors': [{'id': 'D016022', 'term': 'Case-Control Studies'}, {'id': 'D016021', 'term': 'Epidemiologic Studies'}, {'id': 'D016020', 'term': 'Epidemiologic Study Characteristics'}, {'id': 'D004812', 'term': 'Epidemiologic Methods'}, {'id': 'D008919', 'term': 'Investigative Techniques'}, {'id': 'D015331', 'term': 'Cohort Studies'}, {'id': 'D017531', 'term': 'Health Care Evaluation Mechanisms'}, {'id': 'D011787', 'term': 'Quality of Health Care'}, {'id': 'D017530', 'term': 'Health Care Quality, Access, and Evaluation'}, {'id': 'D011634', 'term': 'Public Health'}, {'id': 'D004778', 'term': 'Environment and Public Health'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 50}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'ENROLLING_BY_INVITATION', 'startDateStruct': {'date': '2023-09-01', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-07', 'completionDateStruct': {'date': '2025-06-05', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2023-07-19', 'studyFirstSubmitDate': '2023-06-30', 'studyFirstSubmitQcDate': '2023-07-19', 'lastUpdatePostDateStruct': {'date': '2023-07-21', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-07-21', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2024-09-01', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Muscle strenght', 'timeFrame': 'through study completion, an average of 1 year', 'description': 'Evaluation of muscle strength with MRC Scale (score 1-5 from weaker to stronger)'}, {'measure': 'Muscle biopsy', 'timeFrame': 'through study completion, an average of 1 year', 'description': 'Evaluation of histology and calpain 3 expression (present, reduced, absent)'}, {'measure': 'Creatin Kinase', 'timeFrame': 'through study completion, an average of 1 year', 'description': 'Amount of creatine kinase in blood in units (U) of enzyme activity per liter (L) of serum'}, {'measure': 'Clinical history', 'timeFrame': 'through study completion, an average of 1 year', 'description': 'Data collection sheet from clinical records'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A']}, 'referencesModule': {'references': [{'pmid': '41373542', 'type': 'DERIVED', 'citation': "D'Este G, Giorgetti A, Cassandrini D, Magri F, Ronchi D, Rubegni A, Lopergolo D, Malandrini A, Merlini L, Vattemi G, Tonin P, Barresi R. Recurrent CAPN3 p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity. Int J Mol Sci. 2025 Nov 25;26(23):11384. doi: 10.3390/ijms262311384."}]}, 'descriptionModule': {'briefSummary': 'Mutations in the CAPN3 gene cause muscular dystrophies with dysfunction in calpain-3. Calpainopathies are usually inherited in an autosomal recessive manner but in some families they can occur in a dominant inheritance. The significance of heterozygous variants is difficult to interpret in the absence of family history. In this study, the investigators will review the clinical and laboratory information in a cohort of patients identified in the participating centers, with the aim of improving the diagnostic strategy of dominant calpainopathies.', 'detailedDescription': "The investigators will review clinical and biomarker information in a cohort of 50 patients with heterozygous variants in the CAPN3 gene. Patients are referred by participating centers who will provide anonymised information on the clinical phenotype and laboratory test results. Suitable subjects will be contacted to obtain informed consent. Pseudonymised anamnestic data will be collected from the patient's clinical history and medical records.The aim is to identify a set of multidisciplinary data sufficient to define a diagnostic algorithm for the dominant calpainopathies."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Suitable subjects identified in the participating centers.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Clinical LGMD phenotype, family history with dominant inheritance or sporadic cases, single variant in CAPN3, second variant excluded by MLPA (Multiplex Ligation Probe Amplification) or by analysis of mRNA extracted from muscle.\n\nExclusion Criteria:\n\n* No variants in CAPN3, two variants in CAPN3'}, 'identificationModule': {'nctId': 'NCT05956132', 'acronym': 'DOM-CAL', 'briefTitle': 'Clinical and Biochemical Features for the Identification of Dominant Calpainopathies', 'organization': {'class': 'OTHER', 'fullName': 'IRCCS San Camillo, Venezia, Italy'}, 'officialTitle': 'Retrospective Analysis of Clinical and Biochemical Features for the Identification of Dominant Inheritance of Calpainopathies', 'orgStudyIdInfo': {'id': '2023.08'}}, 'armsInterventionsModule': {'interventions': [{'name': 'retrospective study', 'type': 'OTHER', 'description': 'data collection from clinical history and medical records'}]}, 'contactsLocationsModule': {'locations': [{'zip': '30126', 'city': 'Venice-Lido', 'state': 'VE', 'country': 'Italy', 'facility': 'San Camillo Irccs', 'geoPoint': {'lat': 45.4131, 'lon': 12.3742}}, {'city': 'Venice-Lido', 'country': 'Italy', 'facility': 'IRCCS San Camillo', 'geoPoint': {'lat': 45.4131, 'lon': 12.3742}}], 'overallOfficials': [{'name': 'RITA BARRESI, DR', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'IRCCS SAN CAMILLO'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO', 'description': 'Data and images may be disclosed in strictly anonymous form through meetings, conferences and scientific publications. In any case, the name or any other detail suitable for identifying the individual participant will not be disclosed as the data may only be presented in aggregate form.'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'IRCCS San Camillo, Venezia, Italy', 'class': 'OTHER'}, 'collaborators': [{'name': 'IRCCS Fondazione Stella Maris', 'class': 'OTHER'}, {'name': 'Istituto Giannina Gaslini', 'class': 'OTHER'}, {'name': 'Ospedale Policlinico San Martino', 'class': 'OTHER'}, {'name': 'Universita di Verona', 'class': 'OTHER'}, {'name': 'Azienda Ospedaliera Universitaria Senese', 'class': 'OTHER'}, {'name': "Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico", 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}