Ignite Creation Date:
2025-12-24 @ 5:42 PM
Ignite Modification Date:
2026-02-06 @ 10:14 AM
Study NCT ID:
NCT04120168
Status:
COMPLETED
Last Update Posted:
2022-10-24
First Post:
2019-10-07
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D020388', 'term': 'Muscular Dystrophy, Duchenne'}, {'id': 'D006009', 'term': 'Glycogen Storage Disease Type II'}], 'ancestors': [{'id': 'D009136', 'term': 'Muscular Dystrophies'}, {'id': 'D020966', 'term': 'Muscular Disorders, Atrophic'}, {'id': 'D009135', 'term': 'Muscular Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D020140', 'term': 'Lysosomal Storage Diseases, Nervous System'}, {'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D006008', 'term': 'Glycogen Storage Disease'}, {'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}], 'ancestors': [{'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': '* Acid Alpha IgGlucosidase alpha enzyme test for Late Onset Pompe Disease and gene sequencing test from the same sample in samples with low enzyme activity\n* Genetic Analysis for DMD (only in boys): Detection of dystrophin gene for duplication and deletion with MLPA (Multiplex-ligation dependent probe amplification) and re-screening for other mutations by gene sequencing in patients without MLPA deletion / duplication.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'OTHER'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 590}, 'targetDuration': '3 Months', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2019-04-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2022-05', 'completionDateStruct': {'date': '2022-10-21', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2022-10-21', 'studyFirstSubmitDate': '2019-10-07', 'studyFirstSubmitQcDate': '2019-10-08', 'lastUpdatePostDateStruct': {'date': '2022-10-24', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2019-10-09', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2022-01-30', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Frequency of Duchenne muscular dystrophin in boys and adolescents', 'timeFrame': '1 year', 'description': 'The endpoints of the study were to determine the frequency of Duchenne muscular dystrophin in boys and adolescents with unexplained transaminase elevation for at least 3 months and in late onset Pompe disease in girls and boys and to determine the demographic and clinical characteristics of these patients.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['CPK', 'Transaminase', 'DMD', 'Pompe'], 'conditions': ['Duchenne Muscular Dystrophy', 'Pompe Disease (Late-onset)']}, 'referencesModule': {'references': [{'pmid': '37818166', 'type': 'DERIVED', 'citation': 'Kansu A, Kuloglu Z, Tumgor G, Taskin DG, Dalgic B, Caltepe G, Demiroren K, Dogan G, Tuna Kirsaclioglu C, Arslan D, Isik IA, Demir H, Bekem O, Sahin Y, Bayrak NA, Selimoglu MA, Yavuz S, Taskaya IE, Altay D; VICTORIA Study Group. The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study. Front Pediatr. 2023 Sep 25;11:1272177. doi: 10.3389/fped.2023.1272177. eCollection 2023.'}]}, 'descriptionModule': {'briefSummary': 'This is a multicenter prospective non-drug screening study. The working period is 12 months. There is no research product to be followed or used in the study.\n\nDemographic data, medical and family histories of the patients included in the study will be collected at the first admission. The following laboratory values of the patients will be collected:\n\n* Alanine Transaminase (ALT)\n* Aspartate Transaminase (AST)\n* Gamma Glutamyl Transferase (GGT)\n* Creatine Phosphokinase (CPK)\n* In addition, physical examination information and Abdominal USG and Liver Biopsy Results, if any, will be collected. Following the above scans, enzyme analysis for late-onset Pompe disease in boys and girls and adolescents with high CPK levels and molecular genetic tests for Duchenne muscular dystrophy in boys and adolescents with high CPK levels will be performed.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '18 Years', 'minimumAge': '3 Months', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Boys and girls with unexplained transaminase elevation for at least 3 months', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* 3 months -18 years old boys and girls\n* Serum transaminase levels (serum ALT and / or AST levels\\> 1.52 upper limit of normal (ULN)) for at least 3 months\n* The willingness of the patient and / or legal representative to sign the written consent form\n\nExclusion Criteria:\n\n* Patients less than 3 months\n* Patients with a known history of liver disease\n* Patients with a known history of muscle disease\n* Patients with a known history of rheumatologic disease\n* Patients with clinical history or physical examination findings that support the possibility of liver disease (Jaundice, variceal bleeding, hepatomegaly, splenomegaly, ascites)\n* ICU patients\n* Patients with known congenital anomalies\n* Patients with organ failure\n* Patients with elevated serum GGT, Total Bliribun or Direct Bilirubin levels'}, 'identificationModule': {'nctId': 'NCT04120168', 'acronym': 'VICTORIA', 'briefTitle': 'Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease', 'organization': {'class': 'OTHER', 'fullName': 'Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition'}, 'officialTitle': 'Multicenter Non-Drug Screening Study to Determine the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease in Children With Unexplained Transaminase Elevation', 'orgStudyIdInfo': {'id': 'VICTORIA'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'DMD and Pompe Disease Cohort', 'description': 'The aim of this study gropu was to determine the frequency of Duchenne muscular dystrophin in boys and adolescents with unexplained transaminase elevation for at least 3 months and in late onset Pompe disease in girls and boys and to determine the demographic and clinical characteristics of these patients.', 'interventionNames': ['Genetic: Laboratory Tests']}], 'interventions': [{'name': 'Laboratory Tests', 'type': 'GENETIC', 'description': '* Acid Alpha IgGlucosidase alpha enzyme test for Late Onset Pompe Disease and gene sequencing test from the same sample in samples with low enzyme activity\n* Genetic Analysis for DMD (only in boys): Detection of dystrophin gene for duplication and deletion with MLPA (Multiplex-ligation dependent probe amplification) and re-screening for other mutations by gene sequencing in patients without MLPA deletion / duplication.', 'armGroupLabels': ['DMD and Pompe Disease Cohort']}]}, 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Yıl University School of Medicine', 'geoPoint': {'lat': 38.49457, 'lon': 43.38323}}, {'city': 'Zonguldak', 'country': 'Turkey (Türkiye)', 'facility': 'Bulent Ecevit University, Faculty of Medicine', 'geoPoint': {'lat': 41.45139, 'lon': 31.79305}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}