NCT04120168

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

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 590 (actual)
• Sponsor: Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition · Academic / Other
• Sex: All
• Age: 3 Months – 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Duchenne Muscular Dystrophy
• Pompe Disease (Late-onset)

Interventions

Type	Name	Description
GENETIC	Laboratory 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.

Timeline

• Start date: 2019-04-01
• Primary completion: 2022-01-30
• Completion: 2022-10-21
• First posted: 2019-10-09
• Last updated: 2022-10-24

Locations

51 sites across 1 country: Turkey (Türkiye)