Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease (VICTORIA)
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|ClinicalTrials.gov Identifier: NCT04120168|
Recruitment Status : Recruiting
First Posted : October 9, 2019
Last Update Posted : October 9, 2019
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.
Demographic 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:
- Alanine Transaminase (ALT)
- Aspartate Transaminase (AST)
- Gamma Glutamyl Transferase (GGT)
- Creatine Phosphokinase (CPK)
- 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.
|Condition or disease||Intervention/treatment|
|Duchenne Muscular Dystrophy Pompe Disease (Late-onset)||Genetic: Laboratory Tests|
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||1500 participants|
|Target Follow-Up Duration:||3 Months|
|Official Title:||Multicenter Non-Drug Screening Study to Determine the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease in Children With Unexplained Transaminase Elevation|
|Actual Study Start Date :||April 1, 2019|
|Estimated Primary Completion Date :||March 2020|
|Estimated Study Completion Date :||March 2020|
DMD and Pompe Disease Cohort
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.
Genetic: Laboratory Tests
- Frequency of Duchenne muscular dystrophin in boys and adolescents [ Time Frame: 1 year ]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.
Biospecimen Retention: Samples With DNA
- 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
- 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04120168
|Contact: Gülden Ortacfirstname.lastname@example.org|
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