Ignite Creation Date:
2025-12-24 @ 11:02 PM
Ignite Modification Date:
2025-12-28 @ 1:56 AM
Study NCT ID:
NCT00004769
Status:
COMPLETED
Last Update Posted:
2013-01-28
First Post:
2000-02-24
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D009223', 'term': 'Myotonic Dystrophy'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D020391', 'term': 'Muscular Dystrophy, Facioscapulohumeral'}, {'id': 'D035583', 'term': 'Rare Diseases'}], 'ancestors': [{'id': 'D009136', 'term': 'Muscular Dystrophies'}, {'id': 'D020966', 'term': 'Muscular Disorders, Atrophic'}, {'id': 'D009135', 'term': 'Muscular Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D020967', 'term': 'Myotonic Disorders'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 130}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '1993-12'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2013-01', 'completionDateStruct': {'date': '2000-03', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2013-01-25', 'studyFirstSubmitDate': '2000-02-24', 'studyFirstSubmitQcDate': '2000-02-24', 'lastUpdatePostDateStruct': {'date': '2013-01-28', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2000-02-25', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2000-03', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Quantitative myometry (QMT)', 'timeFrame': 'Visit 1'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Genetic diseases', 'Myotonic muscular dystrophy', 'Facioscapulohumeral muscular dystrophy', 'CMT', 'Rare disease'], 'conditions': ['Myotonic Muscular Dystrophy']}, 'descriptionModule': {'briefSummary': 'OBJECTIVES: I. Examine the interrelationships between muscle wasting (phenotype), the degree of myotonic dystrophy (DM) gene expression (genotype) in patients with DM.\n\nII. Characterize the insulin resistance in these patients. III. Assess the glucose uptake in the leg and forearm tissues of these patients.\n\nIV. Determine the stability of the DM gene lesion in muscles over a 5-10 year period.', 'detailedDescription': 'PROTOCOL OUTLINE: Patients are placed on a meatless diet 3 days prior to study entry.\n\nDuring the first 5-day hospital stay, patients receive an oral glucose tolerance test, an intravenous glucose tolerance test, and an intravenous infusion of insulin and glucose (dextrose) to determine the degree of insulin resistance. Patients also receive dual x-ray absorptiometry (DEXA) scan and total body potassium count to measure muscle mass. Patients undergo strength testing and physical fitness screening. A needle biopsy is performed to investigate the genetic alterations associated with this disease.\n\nDuring the second 3-day hospital stay, patients receive an intravenous infusion of insulin, stable isotopic glucose, and stable isotopic glycerol.\n\nDuring the third 3-day hospital stay, a catheter is placed in the femoral artery, femoral vein, and in each arm. Patients receive an infusion of stable isotopic glucose, stable isotopic phenylalanine, and insulin. Measurements of the balance of amino acids and glucose across the forearm and leg are completed. Green dye is infused to measure blood flow in the leg.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT'], 'maximumAge': '60 Years', 'minimumAge': '21 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'National sample', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Clinically mild or moderate myotonic dystrophy (DM), proximal myotonic myopathy (PROMM), facioscapulohumeral muscular dystrophy (FSH) or, Charcot-Marie-Tooth (CMT)\n* Mild or moderate DM defined as: Mild muscle weakness in the limbs, modest facial weakness, and mild grip myotonia; Moderate muscle weakness in the limbs, typical DM facies, and prominent grip myotonia\n\nExclusion Criteria:\n\n* Prior or concurrent therapy\n* Obese\n* Concurrent acute illness'}, 'identificationModule': {'nctId': 'NCT00004769', 'briefTitle': 'Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy', 'organization': {'class': 'OTHER', 'fullName': 'University of Rochester'}, 'officialTitle': 'Myotonic Dystrophy:Muscle Wasting and Altered Metabolism', 'orgStudyIdInfo': {'id': '199/11770'}, 'secondaryIdInfos': [{'id': 'URMC-583', 'type': 'OTHER', 'domain': 'University of Rochester'}, {'id': 'URMC-445', 'type': 'OTHER', 'domain': 'University of Rochester'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Myotonic dystrophy', 'description': 'Subjects with myotonic dystrophy'}, {'label': 'Healthy controls', 'description': 'Healthy subjects'}, {'label': 'Disease controls 1', 'description': 'Subjects with FSHD'}, {'label': 'Disease controls 2', 'description': 'Subjects with CMT'}]}, 'contactsLocationsModule': {'overallOfficials': [{'name': 'Richard T. Moxley, III', 'role': 'STUDY_CHAIR', 'affiliation': 'University of Rochester'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of Rochester', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Professor Of Neurology', 'investigatorFullName': 'Richard T Moxley', 'investigatorAffiliation': 'University of Rochester'}}}}