Ignite Creation Date:
2025-12-24 @ 3:30 PM
Ignite Modification Date:
2025-12-26 @ 5:26 AM
Study NCT ID:
NCT02432092
Status:
RECRUITING
Last Update Posted:
2025-06-26
First Post:
2015-04-28
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Pediatric Cardiomyopathy Mutation Analysis
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D009202', 'term': 'Cardiomyopathies'}, {'id': 'D002311', 'term': 'Cardiomyopathy, Dilated'}, {'id': 'D002312', 'term': 'Cardiomyopathy, Hypertrophic'}, {'id': 'D002313', 'term': 'Cardiomyopathy, Restrictive'}, {'id': 'D019571', 'term': 'Arrhythmogenic Right Ventricular Dysplasia'}, {'id': 'D006332', 'term': 'Cardiomegaly'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D006333', 'term': 'Heart Failure'}], 'ancestors': [{'id': 'D000083083', 'term': 'Laminopathies'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D001020', 'term': 'Aortic Stenosis, Subvalvular'}, {'id': 'D001024', 'term': 'Aortic Valve Stenosis'}, {'id': 'D000082862', 'term': 'Aortic Valve Disease'}, {'id': 'D006349', 'term': 'Heart Valve Diseases'}, {'id': 'D006330', 'term': 'Heart Defects, Congenital'}, {'id': 'D018376', 'term': 'Cardiovascular Abnormalities'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D006984', 'term': 'Hypertrophy'}, {'id': 'D020763', 'term': 'Pathological Conditions, Anatomical'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Whole Blood, Saliva, Tissue'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 300}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2014-04'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-06', 'completionDateStruct': {'date': '2030-12-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-06-23', 'studyFirstSubmitDate': '2015-04-28', 'studyFirstSubmitQcDate': '2015-04-28', 'lastUpdatePostDateStruct': {'date': '2025-06-26', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2015-05-01', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2030-12-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Elucidate the molecular genetics of cardiomyopathy', 'timeFrame': '7 years'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Cardiomegaly', 'Cardiovascular Diseases', 'Heart Diseases', 'Systolic dysfunction', 'Diastolic dysfunction', 'Ventricular hypertrophy', 'Heart failure'], 'conditions': ['Cardiomyopathies', 'Dilated Cardiomyopathy', 'Hypertrophic Cardiomyopathy', 'Restrictive Cardiomyopathy', 'Arrhythmogenic Right Ventricular Cardiomyopathy', 'Left Ventricular Non-compaction Cardiomyopathy']}, 'descriptionModule': {'briefSummary': 'The goal of this protocol is to obtain information from individuals with cardiomyopathy and from their families in order to elucidate the molecular genetics of this disorder. This will provide the basis for future genetic counseling as well as contribute to elucidating the biology of normal and abnormal cardiac function.', 'detailedDescription': 'Cardiomyopathy is a genetically heterogeneous heart muscle disorder that results in ventricular dysfunction. While significant progress has been made in identifying the genetic basis of cardiomyopathy in adults, molecular diagnosis in children has proven more challenging and current algorithms do not incorporate mutation analysis in the clinical protocol. However, recent studies indicate that cardiomyopathy outcomes in children are origin specific, highlighting the importance of precise diagnosis. The goal of this study is to identify the genetic causes of pediatric cardiomyopathy. Rapid, comprehensive and cost-effective detection of genetic causes of cardiomyopathy will aid management and development of novel treatment strategies.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Families affected by cardiomyopathy', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Subjects with cardiomyopathy\n* Family members of subjects with cardiomyopathy\n\nExclusion Criteria:\n\n* Subjects without cardiomyopathy\n* Family members of subjects without cardiomyopathy'}, 'identificationModule': {'nctId': 'NCT02432092', 'briefTitle': 'Pediatric Cardiomyopathy Mutation Analysis', 'organization': {'class': 'OTHER', 'fullName': 'Indiana University'}, 'officialTitle': 'Pediatric Cardiomyopathy Mutation Analysis', 'orgStudyIdInfo': {'id': '1403919054'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Affected', 'description': 'participants with cardiomyopathy'}, {'label': 'Family Members of affected', 'description': 'Family members of participants with cardiomyopathy (can be affected or unaffected)'}]}, 'contactsLocationsModule': {'locations': [{'zip': '46202', 'city': 'Indianapolis', 'state': 'Indiana', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Stephanie Ware, MD, PhD', 'role': 'CONTACT', 'email': 'stware@iu.edu', 'phone': '317-278-2807'}], 'facility': 'IU School of Medicine', 'geoPoint': {'lat': 39.76838, 'lon': -86.15804}}], 'centralContacts': [{'name': 'Lindsey Helvaty, BS, BA', 'role': 'CONTACT', 'email': 'lhelvaty@iu.edu', 'phone': '(317) 278-3020'}, {'name': 'Stephanie Ware, MD, PhD', 'role': 'CONTACT', 'email': 'stware@iu.edu', 'phone': '(317) 278-2807'}], 'overallOfficials': [{'name': 'Stephanie Ware, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'IU School of Medicine'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Indiana University', 'class': 'OTHER'}, 'collaborators': [{'name': 'American Heart Association', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Professor of Pediatrics and Medical and Molecular Genetics', 'investigatorFullName': 'Stephanie Ware', 'investigatorAffiliation': 'Indiana University'}}}}