Ignite Creation Date:
2025-12-25 @ 12:43 AM
Ignite Modification Date:
2025-12-25 @ 10:56 PM
Study NCT ID:
NCT01547767
Status:
COMPLETED
Last Update Posted:
2021-03-04
First Post:
2012-03-06
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D009135', 'term': 'Muscular Diseases'}], 'ancestors': [{'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 2}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2012-02-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2021-03', 'completionDateStruct': {'date': '2021-03-03', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2021-03-03', 'studyFirstSubmitDate': '2012-03-06', 'studyFirstSubmitQcDate': '2012-03-06', 'lastUpdatePostDateStruct': {'date': '2021-03-04', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2012-03-08', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2021-03-03', 'type': 'ACTUAL'}}, 'conditionsModule': {'keywords': ['Metabolism', 'Muscle', 'Mutation', 'ISCU Myopathy', 'Myopathy'], 'conditions': ['Myopathy']}, 'referencesModule': {'references': [{'pmid': '18304497', 'type': 'BACKGROUND', 'citation': 'Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet. 2008 Mar;82(3):652-60. doi: 10.1016/j.ajhg.2007.12.012. Epub 2008 Feb 14.'}, {'pmid': '14213465', 'type': 'BACKGROUND', 'citation': 'LARSSON LE, LINDERHOLM H, MUELLER R, RINGQVIST T, SOERNAES R. HEREDITARY METABOLIC MYOPATHY WITH PAROXYSMAL MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS. J Neurol Neurosurg Psychiatry. 1964 Oct;27(5):361-80. doi: 10.1136/jnnp.27.5.361. No abstract available.'}, {'pmid': '1918374', 'type': 'BACKGROUND', 'citation': 'Haller RG, Henriksson KG, Jorfeldt L, Hultman E, Wibom R, Sahlin K, Areskog NH, Gunder M, Ayyad K, Blomqvist CG, et al. Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect. J Clin Invest. 1991 Oct;88(4):1197-206. doi: 10.1172/JCI115422.'}], 'seeAlsoLinks': [{'url': 'https://clinicalstudies.info.nih.gov/cgi/detail.cgi?B_2012-CH-0062.html', 'label': 'NIH Clinical Center Detailed Web Page'}]}, 'descriptionModule': {'briefSummary': 'Background:\n\n\\- A mutation in a gene known as ISCU was found to be the cause of a rare myopathy that affects the muscles. Researchers collected clinical samples from people with this myopathy. More research is being done to develop a therapy for this disease. Researchers are asking for permission to study the samples already collected.\n\nObjectives:\n\n\\- To allow researchers to use clinical samples collected to study new treatments for ISCU myopathy.\n\nEligibility:\n\n\\- People with ISCU myopathy who have provided clinical samples for study.\n\nDesign:\n\n* Participants will allow researchers to study clinical samples already collected. Blood, urine, muscle, and cell samples may be used. Medical records and photographs may also be studied.\n* Treatment will not be provided as part of this study.', 'detailedDescription': 'In 2008, NIH investigators collaborated to find a mutation in the human gene, ISCU, which is the official human gene name for a gene involved in assembly of iron sulfur clusters, and is abbreviated from Iron Sulfur Cluster assembly protein, U, which was identified as the cause of a rare myopathy that affected about 25 patients in Sweden. This protocol is intended to allow for the collection and analysis of clinical specimens and medical information from several research subjects who previously participated in studies that led to identification of the disease gene.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '80 Years', 'minimumAge': '18 Years', 'healthyVolunteers': False, 'eligibilityCriteria': '* INCLUSION CRITERIA:\n* Subjects will be eligible for this study if they have ISCU myopathy or carry a mutation in ISCU.\n\nNo exclusions will be made based on gender or, ethnicity and adults\n\nwill be the only patients included.'}, 'identificationModule': {'nctId': 'NCT01547767', 'briefTitle': 'Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy', 'organization': {'class': 'NIH', 'fullName': 'National Institutes of Health Clinical Center (CC)'}, 'officialTitle': 'Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy', 'orgStudyIdInfo': {'id': '120062'}, 'secondaryIdInfos': [{'id': '12-CH-0062'}]}, 'contactsLocationsModule': {'locations': [{'zip': '20892', 'city': 'Bethesda', 'state': 'Maryland', 'country': 'United States', 'facility': 'National Institutes of Health Clinical Center, 9000 Rockville Pike', 'geoPoint': {'lat': 38.98067, 'lon': -77.10026}}], 'overallOfficials': [{'name': 'Tracey A Rouault, M.D.', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)', 'class': 'NIH'}, 'responsibleParty': {'type': 'SPONSOR'}}}}