Duchenne Muscular Dystrophy, Pompe Disease (Late-onset)
Conditions
Keywords
CPK, Transaminase, DMD, Pompe
Brief summary
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.
Interventions
GENETICLaboratory Tests
* 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.
Sponsors
Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
3 Months to 18 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Frequency of Duchenne muscular dystrophin in boys and adolescents | 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. |
Countries
Turkey (Türkiye)
Outcome results
None listed