Ignite Creation Date:
2025-12-24 @ 11:00 PM
Ignite Modification Date:
2026-01-01 @ 4:30 PM
Study NCT ID:
NCT02840669
Status:
COMPLETED
Last Update Posted:
2018-12-10
First Post:
2016-07-19
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D005621', 'term': 'Friedreich Ataxia'}, {'id': 'D009202', 'term': 'Cardiomyopathies'}], 'ancestors': [{'id': 'D013132', 'term': 'Spinocerebellar Degenerations'}, {'id': 'D002526', 'term': 'Cerebellar Diseases'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D013118', 'term': 'Spinal Cord Diseases'}, {'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': 'D028361', 'term': 'Mitochondrial Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D005080', 'term': 'Exercise Test'}], 'ancestors': [{'id': 'D006334', 'term': 'Heart Function Tests'}, {'id': 'D003935', 'term': 'Diagnostic Techniques, Cardiovascular'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D012129', 'term': 'Respiratory Function Tests'}, {'id': 'D003948', 'term': 'Diagnostic Techniques, Respiratory System'}, {'id': 'D016552', 'term': 'Ergometry'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'DIAGNOSTIC', 'interventionModel': 'FACTORIAL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 40}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2016-07', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2018-12', 'completionDateStruct': {'date': '2018-09', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2018-12-07', 'studyFirstSubmitDate': '2016-07-19', 'studyFirstSubmitQcDate': '2016-07-19', 'lastUpdatePostDateStruct': {'date': '2018-12-10', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2016-07-21', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2018-06', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Exercise-stress test', 'timeFrame': '2 hours'}, {'measure': 'Cardiac magnetic resonance imaging (CMR)', 'timeFrame': '2 hours'}, {'measure': 'Echocardiogram', 'timeFrame': '2 hours'}, {'measure': 'Level of cardiac biomarkers in serum', 'timeFrame': '30 minutes'}, {'measure': 'Fatigue Severity Scale', 'timeFrame': '30 minutes'}]}, 'conditionsModule': {'keywords': ['Cardiomyopathy'], 'conditions': ["Friedreich's Ataxia"]}, 'descriptionModule': {'briefSummary': "Friedreich's ataxia (FA) is an autosomal recessive disease with an incidence of 1/50,000 in the Caucasian population. The main manifestations of FA are progressive sensory and cerebellar ataxia and cardiomyopathy (CM). It is the most common form of inherited ataxia. A severe CM affects \\~60% of FA patients, mostly young adults, and leads to cardiac failure then death. Currently, no therapy can change the course of this severe cardiomyopathy.\n\nThis study is designed to characterize the cardiac manifestations of FA using cardiac magnetic resonance (CMR), echocardiography, serum cardiac biomarkers and evaluation of fatigue severity, in the context of the neurological disease."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'healthyVolunteers': True, 'eligibilityCriteria': "Inclusion Criteria (Friedreich's Ataxia):\n\n* Males and females;\n* ≥ 18 years old;\n* Willing and able to provide informed consent;\n* Definitive diagnosis of FA, based on clinical phenotype and genotype;\n* With a hypertrophic cardiomyopathy;\n* Ability to complete study assessments.\n\nExclusion Criteria (Friedreich's Ataxia):\n\n* Symptoms of cardiac failure;\n* Moderate to severe atrial or ventricular arrhythmias;\n* History of angina pectoris;\n* Inability to undergo cardiac MRI;\n* Clinical history or evidence of diabetes;\n* Abnormal kidney function;\n* Females who are pregnant or nursing;\n* Receipt of an investigational drug within 30 days or 5 half-lives, or active enrollment in an investigational medication or device study;\n* Inability to sit with back support;\n* Inability to undergo exercise test;\n* Inability to comply with all study requirements;\n* Unaffiliated to any French health insurance or equivalent.\n\nInclusion Criteria (Healthy Volunteers):\n\n* Healthy males and females;\n* ≥ 18 years old;\n* Willing and able to provide informed consent;\n* Age and gender matched to the Friedreich's Ataxia group;\n* Ability to complete study assessments.\n\nExclusion Criteria (Healthy Volunteers):\n\n* Inability to undergo cardiac MRI;\n* Clinical history or evidence of diabetes;\n* Abnormal kidney function;\n* Females who are pregnant or nursing;\n* Receipt of an investigational drug within 30 days or 5 half-lives, or active enrollment in an investigational medication or device study;\n* Inability to undergo exercise test;\n* Inability to comply with all study requirements;\n* Unaffiliated to any French health insurance or equivalent."}, 'identificationModule': {'nctId': 'NCT02840669', 'briefTitle': "A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)", 'organization': {'class': 'INDUSTRY', 'fullName': 'Adverum Biotechnologies, Inc.'}, 'officialTitle': "A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)", 'orgStudyIdInfo': {'id': 'CM-FA-101'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'OTHER', 'label': "Friedreich's Ataxia", 'interventionNames': ['Procedure: Cardiac magnetic resonance imaging (CMR)', 'Procedure: Exercise-stress test', 'Procedure: Echocardiography (ECHO)', 'Procedure: Cardiac-related blood studies']}, {'type': 'OTHER', 'label': 'Healthy Volunteers (Controls)', 'interventionNames': ['Procedure: Cardiac magnetic resonance imaging (CMR)', 'Procedure: Exercise-stress test', 'Procedure: Echocardiography (ECHO)', 'Procedure: Cardiac-related blood studies']}], 'interventions': [{'name': 'Cardiac magnetic resonance imaging (CMR)', 'type': 'PROCEDURE', 'armGroupLabels': ["Friedreich's Ataxia", 'Healthy Volunteers (Controls)']}, {'name': 'Exercise-stress test', 'type': 'PROCEDURE', 'armGroupLabels': ["Friedreich's Ataxia", 'Healthy Volunteers (Controls)']}, {'name': 'Echocardiography (ECHO)', 'type': 'PROCEDURE', 'armGroupLabels': ["Friedreich's Ataxia", 'Healthy Volunteers (Controls)']}, {'name': 'Cardiac-related blood studies', 'type': 'PROCEDURE', 'armGroupLabels': ["Friedreich's Ataxia", 'Healthy Volunteers (Controls)']}]}, 'contactsLocationsModule': {'locations': [{'zip': '75013', 'city': 'Paris', 'country': 'France', 'facility': 'Hôpital Pitié-Salpêtrière, AP-HP', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'overallOfficials': [{'name': 'Alexandra Durr, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Groupe Hospitalier Pitié-Salpêtrière, APHP'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Adverum Biotechnologies, Inc.', 'class': 'INDUSTRY'}, 'collaborators': [{'name': 'Adverum Biotechnologies SAS, a wholly owned subsidiary of Adverum Biotechnologies, Inc.', 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'SPONSOR'}}}}