Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease

Study Overview
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Brief Summary
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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.

Official Title
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Multicenter Non-Drug Screening Study to Determine the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease in Children With Unexplained Transaminase Elevation

Conditions
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Duchenne Muscular Dystrophy, Pompe Disease (Late-onset)

Intervention / Treatment
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* Genetic: Laboratory Tests


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 3 months -18 years old boys and girls Serum transaminase levels (serum ALT and / or AST levels> 1.52 upper limit of normal (ULN)) for at least 3 months The willingness of the patient and / or legal representative to sign the written consent form Exclusion Criteria: Patients less than 3 months Patients with a known history of liver disease Patients with a known history of muscle disease Patients with a known history of rheumatologic disease Patients with clinical history or physical examination findings that support the possibility of liver disease (Jaundice, variceal bleeding, hepatomegaly, splenomegaly, ascites) ICU patients Patients with known congenital anomalies Patients with organ failure Patients with elevated serum GGT, Total Bliribun or Direct Bilirubin levels

Ages Eligible for Study
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Minimum Age: 3 Months
Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| DMD and Pompe Disease Cohort<br>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<br>* 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.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Frequency of Duchenne muscular dystrophin in boys and adolescents | 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. | 1 year | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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CPK, Transaminase, DMD, Pompe