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

Completed

• Conditions: Duchenne Muscular Dystrophy; Pompe Disease (Late-onset)

• Registration Number: NCT04120168
• Lead Sponsor: Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2019-04-01
• Study First Submitted: 2019-10-07
• Study First Submitted QC: 2019-10-08
• Study First Posted: 2019-10-09
• Primary Completion: 2022-01-30
• Status Verified: 2022-05
• Study Completion: 2022-10-21
• Last Update Submitted: 2022-10-21
• Last Update Posted: 2022-10-24

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 590

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (51)

Adana City Hospital; 🇹🇷 Adana, Turkey

Baskent University Adana Hospital; 🇹🇷 Adana, Turkey

Çukurova University Faculty of Medicine, Pediatric Gastroenterology; 🇹🇷 Adana, Turkey

Afyonkarahisar Health Sciences University; 🇹🇷 Afyon, Turkey

Ankara Hospital; 🇹🇷 Ankara, Turkey

Ankara University Faculty of Medicine, Pediatric Gastroenterology; 🇹🇷 Ankara, Turkey

Ankara Yıldırım Beyazıt University, Yenimahalle Training and Research Hospital; 🇹🇷 Ankara, Turkey

Baskent University Faculty of Medicine, Department of Pediatric Gastroenterology; 🇹🇷 Ankara, Turkey

Gazi University Faculty of Medicine, Pediatric Gastroenterology; 🇹🇷 Ankara, Turkey

Gülhane Training and Research Hospital; 🇹🇷 Ankara, Turkey

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