Ignite Creation Date:
2025-12-24 @ 11:28 PM
Ignite Modification Date:
2026-02-25 @ 8:17 PM
Study NCT ID:
NCT02520856
Status:
UNKNOWN
Last Update Posted:
2015-08-13
First Post:
2015-08-05
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
New Diagnostic Strategy in Hypertrophic Cardiomyopathy
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D002312', 'term': 'Cardiomyopathy, Hypertrophic'}], 'ancestors': [{'id': 'D009202', 'term': 'Cardiomyopathies'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D001020', 'term': 'Aortic Stenosis, Subvalvular'}, {'id': 'D001024', 'term': 'Aortic Valve Stenosis'}, {'id': 'D000082862', 'term': 'Aortic Valve Disease'}, {'id': 'D006349', 'term': 'Heart Valve Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D001800', 'term': 'Blood Specimen Collection'}], 'ancestors': [{'id': 'D013048', 'term': 'Specimen Handling'}, {'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D011677', 'term': 'Punctures'}, {'id': 'D013514', 'term': 'Surgical Procedures, Operative'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 200}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2015-07'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2015-08', 'completionDateStruct': {'date': '2018-07', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2015-08-07', 'studyFirstSubmitDate': '2015-08-05', 'studyFirstSubmitQcDate': '2015-08-07', 'lastUpdatePostDateStruct': {'date': '2015-08-13', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2015-08-13', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2017-07', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'whole exome sequencing', 'timeFrame': '12 months'}, {'measure': 'Classic genetic analysis', 'timeFrame': '12 months'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'conditions': ['Hypertrophic Cardiomyopathy']}, 'descriptionModule': {'briefSummary': "Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease characterized by unexplained hypertrophy of the left ventricle, often with predominant involvement of the interventricular septum, and characterized by myocyte disarray and fibrosis.\n\nHCM is the most common familial heart disease with strong genetic heterogeneity, demonstrated over the past 20 years. Mutations in 11 or more genes encoding proteins of the cardiac sarcomere are responsible for (or associated with) HCM.\n\nHowever, 30-40% of sporadic and familial cases of HCM are still genetically unlabelled. In addition, secondary HCM caused by Fabry's disease or amyloidosis, may mimic primary HCM and may be under diagnosed. This may result in a delay in accurate diagnosis and instauration of specific treatment, with possible clinical consequences for the patients.\n\nFor these reasons, we decided to apply a new diagnostic strategy for patients with newly diagnosed HCM, including the whole exome sequencing (WES) technology.\n\nIf correctly applied, this new technology has the potential to strongly reduce the diagnostic wavering leading to earlier diagnosis and genetic counseling in sarcomeric HCM and rarer forms of secondary HCM including Fabry's disease and amyloidosis, and also specific therapy set-up in secondary forms of HCM. It should also allow identifying new genes responsible for HCM.", 'detailedDescription': "Background : Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease characterized by unexplained hypertrophy of the left ventricle, often with predominant involvement of the interventricular septum, and characterized by myocyte disarray and fibrosis.\n\nHCM is the most common familial heart disease with strong genetic heterogeneity, demonstrated over the past 20 years. Mutations in 11 or more genes encoding proteins of the cardiac sarcomere are responsible for (or associated with) HCM.\n\nHowever, 30-40% of sporadic and familial cases of HCM are still genetically unlabelled. In addition, secondary HCM caused by Fabry's disease or amyloidosis, may mimic primary HCM and may be under diagnosed. This may result in a delay in accurate diagnosis and instauration of specific treatment, with possible clinical consequences for the patients.\n\nObjectives : For these reasons, we decided to apply a new diagnostic strategy for patients with newly diagnosed HCM, including the whole exome sequencing (WES) technology.\n\n1. Main objective: to evaluate the additional diagnostic value of the new proposed strategy for the identification of a specific cause of HCM as compared with conventional diagnostic strategy\n2. Secondary objectives:\n\nTo evaluate the frequency of secondary HCM (Fabry's disease, amyloidosis, mitochondrial cardiomyopathies, and others) observed by this systematic screening in a population of newly diagnosed HCM\n\nPerspectives: If correctly applied, this new technology has the potential to strongly reduce the diagnostic wavering leading to earlier diagnosis and genetic counseling in sarcomeric HCM and rarer forms of secondary HCM including Fabry's disease and amyloidosis, and also specific therapy set-up in secondary forms of HCM. It should also allow identifying new genes responsible for HCM."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'patients with unexplained Hypertrophic cardiomyopathy will be prospectively included.\n\nHCM diagnosis will be based on conventional echocardiographic criteria and will be considered definite in the presence of LV hypertrophy without cavity dilatation and without other cardiac or systemic disease able to produce the magnitude of hypertrophy.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* patient with newly diagnosed hypertrophic cardiomyopathy (HCM), based on conventional echocardiographic criteria.The diagnosis of HCM will be considered definite in the presence of left ventricle hypertrophy without cavity dilatation and without other cardiac or systemic disease able to produce the magnitude of hypertrophy.\n\nExclusion Criteria:\n\n* Associated cardiac or non cardiac disease known to cause left ventricle hypertrophy (uncontrolled systemic Hypertension, severe aortic stenosis)'}, 'identificationModule': {'nctId': 'NCT02520856', 'acronym': 'HYPERGEN', 'briefTitle': 'New Diagnostic Strategy in Hypertrophic Cardiomyopathy', 'organization': {'class': 'OTHER', 'fullName': 'Assistance Publique Hopitaux De Marseille'}, 'officialTitle': 'New Diagnostic Strategy in Hypertrophic Cardiomyopathy Including a New Genetic Approach: A Multicentric Prospective Study', 'orgStudyIdInfo': {'id': '2014-29'}, 'secondaryIdInfos': [{'id': 'RCAPHM14_0358', 'type': 'REGISTRY', 'domain': 'Assistance Publique Hôpitaux de Marseille'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Hypertrophic cardiomyopathy', 'description': 'All patients with newly diagnosed unexplained HCM will be prospectively included.\n\nAll patients will undergo both classical genetic analysis and WES technology.', 'interventionNames': ['Other: blood sample']}], 'interventions': [{'name': 'blood sample', 'type': 'OTHER', 'armGroupLabels': ['Hypertrophic cardiomyopathy']}]}, 'contactsLocationsModule': {'locations': [{'zip': '13005', 'city': 'Marseille', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Gilbert HABIB, Professor', 'role': 'CONTACT', 'email': 'gilbert.habib@ap-hm.fr'}], 'facility': 'Assistance Publique Hôpitaux de Marseille', 'geoPoint': {'lat': 43.29695, 'lon': 5.38107}}], 'centralContacts': [{'name': 'Gilbert HABIB, Professor', 'role': 'CONTACT', 'email': 'gilbert.habib@ap-hm.fr'}], 'overallOfficials': [{'name': 'Urielle DESALBRES', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Assistance Publique Hôpitaux de Marseille'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Assistance Publique Hopitaux De Marseille', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}