Ignite Creation Date:
2025-12-25 @ 12:01 AM
Ignite Modification Date:
2025-12-25 @ 9:59 PM
Study NCT ID:
NCT05012358
Status:
COMPLETED
Last Update Posted:
2024-06-12
First Post:
2021-08-12
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Medicine
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D017240', 'term': 'Mitochondrial Myopathies'}, {'id': 'D028361', 'term': 'Mitochondrial Diseases'}, {'id': 'D007625', 'term': 'Kearns-Sayre Syndrome'}], 'ancestors': [{'id': 'D009135', 'term': 'Muscular Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D017246', 'term': 'Ophthalmoplegia, Chronic Progressive External'}, {'id': 'D009886', 'term': 'Ophthalmoplegia'}, {'id': 'D015835', 'term': 'Ocular Motility Disorders'}, {'id': 'D003389', 'term': 'Cranial Nerve Diseases'}, {'id': 'D010243', 'term': 'Paralysis'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D005128', 'term': 'Eye Diseases'}, {'id': 'D012174', 'term': 'Retinitis Pigmentosa'}, {'id': 'D058499', 'term': 'Retinal Dystrophies'}, {'id': 'D012162', 'term': 'Retinal Degeneration'}, {'id': 'D012164', 'term': 'Retinal Diseases'}, {'id': 'D009202', 'term': 'Cardiomyopathies'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D002908', 'term': 'Chronic Disease'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 9}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2022-05-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-06', 'completionDateStruct': {'date': '2024-01-22', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2024-06-11', 'studyFirstSubmitDate': '2021-08-12', 'studyFirstSubmitQcDate': '2021-08-12', 'lastUpdatePostDateStruct': {'date': '2024-06-12', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-08-19', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2024-01-22', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Indicators of disease severity and progression - cardiac movement', 'timeFrame': '2 years', 'description': 'Establish the prevalence and severity of specific morbid indicators of disease severity through use of echocardiogram'}, {'measure': 'Indicators of disease severity and progression - cardiac function', 'timeFrame': '2 years', 'description': 'Establish the prevalence and severity of specific morbid indicators of disease severity through use of magnetic resonance imaging (MRI) of cardiac muscle'}, {'measure': 'Indicators of disease severity and progression - skeletal muscle function', 'timeFrame': '2 years', 'description': 'Establish the prevalence and severity of specific morbid indicators of disease severity through use of magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) of skeletal muscle'}, {'measure': 'Indicators of disease severity and progression - skeletal muscle movement', 'timeFrame': '2 years', 'description': 'Establish the prevalence and severity of specific morbid indicators of disease severity through use of video scoring scale during exercise'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Mitochondrial DNA deletion'], 'conditions': ['Mitochondrial Myopathies', 'Mitochondrial DNA Mutation', 'Mitochondrial Diseases', 'Chronic Progressive External Ophthalmoplegia With Myopathy', 'Kearns-Sayre Syndrome']}, 'descriptionModule': {'briefSummary': 'This study is an observational longitudinal study involving the use of MRIs and video recordings taken at home of patients completing basic tasks. Once consent is obtained, subjects will be asked to schedule an appointment with radiology to undergo the listed MRIs of the heart and/or muscle. Subjects will also be given instructions on how to use the video recording app on their personal devices, or study provided device. The subjects will be followed regularly over the course of two years, submitting video recordings of their movements and reporting to Mayo Clinic for MRIs as scheduled.', 'detailedDescription': 'Mitochondrial myopathy follows a slowly progressive disease course of gradual worsening of muscle weakness and fatigability. Progressive mitochondrial dysfunction is thought to result in structural muscle deterioration (eventually muscle fiber atrophy/necrosis) and underlie these symptoms. Therefore, the study hypothesis is that longitudinal imaging of muscle will capture mitochondrial (using muscle MRS) and structural (using muscle MRI) abnormalities to inform objectively disease progression by capturing structural and biochemical changes in muscle over time.\n\nConventional multivariate analysis tools such as partial least squares-discriminant analysis (PLS-DA) and principal component analysis (PCA) will be used to assess variables of importance in discrimination of 3 subgroups based on underlying molecular defect (mitochondrial DNA (mtDNA) mutations and deletions, and nuclear gene mutations (nDNA)).\n\nThis will be followed by implementation of Collaborative Laboratory Integrated Reports (CLIR) software, a multivariate pattern recognition software that generates post-analytical interpretive tools. This study proposes to quantitatively measure MRS analytes (i.e. lactate, adenosine triphosphate (ATP), etc.) and structural muscle changes by MRI (edema, fat content, etc.). The capability for interactive data analysis would be necessary because of the nature of mitochondrial myopathy (MM) progression. One of the functionalities of CLIR is the creation of post-analytical tools applicable to either diagnosis of one condition - single condition tool; or differential diagnosis between two conditions with overlapping phenotypes (mtDNA deletions, mtDNA mutations, nDNA mutations) - dual scatter plots. The advantages of CLIR are (1) integration of primary markers with all informative permutations of ratios/biomarkers. Ratios calculated between markers not directly related at the biochemical level are particularly helpful to correct for pre-analytical factors and potential analytical bias (2) adjusted for multiple covariates (age, sex) (3) generating individual plots of disease progression.\n\nThis study is an observational longitudinal study involving the use of MRIs and video recordings taken at home of patients completing basic tasks. Subjects will be approached at outpatient appointments, or via phone/mail. Once consent is obtained, subjects will be asked to schedule an appointment with radiology to undergo the listed MRIs of the heart and/or muscle. Subjects will also be given instructions on how to use the video recording app on their personal devices, or study provided device. The subjects will be followed regularly over the course of two years, submitting video recordings of their movements and reporting to Mayo Clinic for MRIs as scheduled. Patients may withdraw from the study at any time without repercussion.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '80 Years', 'minimumAge': '15 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'All participants in the study should have genetic confirmation or muslce biopsy confirmation along with supporting clinical features of mitochondrial disease with weakness in muscle.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Confirmed or suspected primary mitochondrial disorder \\*Suspected mitochondrial disorder would mean that the patient meets clinical criteria and has either biopsy or biochemical testing that supports the diagnosis.\n\nExclusion Criteria:\n\n* Pregnant, breastfeeding\n* Severe cardiac disease who are unable to undergo all the required testing\n* Requiring anesthesia for MRIs\n* Has severe claustrophobia\n* Has implanted devices'}, 'identificationModule': {'nctId': 'NCT05012358', 'briefTitle': 'Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Medicine', 'organization': {'class': 'OTHER', 'fullName': 'Mayo Clinic'}, 'officialTitle': 'Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial', 'orgStudyIdInfo': {'id': '20-002721'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Observational Cohort', 'description': 'no intervention'}]}, 'contactsLocationsModule': {'locations': [{'zip': '55901', 'city': 'Rochester', 'state': 'Minnesota', 'country': 'United States', 'facility': 'Mayo Clinic', 'geoPoint': {'lat': 44.02163, 'lon': -92.4699}}], 'overallOfficials': [{'name': 'Ralitza Gavrilova, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Mayo Clinic'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Mayo Clinic', 'class': 'OTHER'}, 'collaborators': [{'name': 'Casimir, LLC', 'class': 'UNKNOWN'}, {'name': 'Astellas Pharma Inc', 'class': 'INDUSTRY'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Associate Professor of Medical Genetics and Neurology, College of Medicine', 'investigatorFullName': 'Ralitza Gavrilova', 'investigatorAffiliation': 'Mayo Clinic'}}}}