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

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.

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Key information

Conditions

Duchenne Muscular Dystrophy Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Glycogen Storage Disease Glycogen Storage Disease Type II Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy, Duchenne Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases Pompe Disease (Late-onset)

Age range

3 month–18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Adana City Hospital, Adana, Turkey (Türkiye)

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Laboratory Tests

Genetic

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.

Primary outcomes

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.

Sponsors and collaborators

Lead sponsor

Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition

Other

Registry information

Official study 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

Acronym: VICTORIA

Important dates

Study start: 2019
Primary completion: 2022
Study completion: 2022
First posted: Oct 9, 2019
Registry last updated: Oct 24, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Active, Not Recruiting