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

October 21, 2022 updated by: Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition

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

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

590

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Turkey
      • Adana, Turkey
        • Adana City Hospital
      • Adana, Turkey
        • Baskent University Adana Hospital
      • Adana, Turkey
        • Çukurova University Faculty of Medicine, Pediatric Gastroenterology
      • Afyon, Turkey
        • Afyonkarahisar Health Sciences University
      • Ankara, 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
        • Gulhane Training and Research Hospital
      • Ankara, Turkey
        • Hacettepe University Faculty of Medicine, Pediatric Gastroenterology
      • Ankara, Turkey
        • Keçiören Training and Research Hospital
      • Antalya, Turkey
        • SBU Antalya Training and Research Hospital
      • Bursa, Turkey
        • Bursa Yuksek Ihtisas Training and Research Hospital
      • Bursa, Turkey
        • Fatih Ünal, Bursa (Pediatric Gastroenterology Specialist)
      • Bursa, Turkey
        • Uludag University, Faculty of Medicine, Pediatric Gastroenterology
      • Denizli, Turkey
        • Pamukkale University School Of Medicine
      • Elazığ, Turkey
        • Fırat University Faculty of Medicine, Pediatric Gastroenterology
      • Erzurum, Turkey
        • Ataturk University School of Medicine
      • Eskişehir, Turkey
        • Eskisehir Osmangazi University School of Medicine, Pediatric Gastroenterology
      • Gaziantep, Turkey
        • Gaziantep University School of Medicine
      • Isparta, Turkey
        • Isparta City Hospital
      • Isparta, Turkey
        • Süleyman Demirel University Faculty of Medicine
      • Istanbul, Turkey
        • Biruni University School of Medicine
      • Istanbul, Turkey
        • Health Sciences University Istanbul Umraniye Health Application and Research Center
      • Istanbul, Turkey
        • Health Sciences University Şişli Etfal Training and Research Hospital
      • Istanbul, Turkey
        • İstanbul Altunizade Acıbadem Hospital
      • Istanbul, Turkey
        • İstanbul Bakırköy Sadi Konuk Training and Research Hospital
      • Istanbul, Turkey
        • Istanbul Haseki Training and Research Hospital
      • Istanbul, Turkey
        • Istanbul Medeniyet University School of Medicine
      • Istanbul, Turkey
        • Istanbul Okmeydani Training and Research Hospital
      • Istanbul, Turkey
        • Istinye University Faculty of Medicine
      • Istanbul, Turkey
        • Kanuni Sultan Suleyman Training and Research Hospital
      • Istanbul, Turkey
        • Koc University Hospital
      • Istanbul, Turkey
        • Marmara University School of Medicine, Pediatric Gastroenterology
      • Istanbul, Turkey
        • Medipol University, Istanbul
      • Istanbul, Turkey
        • Yeditepe University Faculty of Medicine, Department of Pediatric Gastroenterology
      • Karabük, Turkey
        • Karabuk University Faculty of Medicine
      • Kayseri, Turkey
        • Erciyes University School of Medicine, Pediatric Gasrtroenterology
      • Kocaeli, Turkey
        • Kocaeli University School of Medicine
      • Konya, Turkey
        • Selcuk University Faculty of Medicine, Pediatric Gastroenterology
      • Malatya, Turkey
        • Inonu University School of Medicine, Pediatric Gastroenterology
      • Malatya, Turkey
        • Malatya Training and Research Hospital
      • Mersin, Turkey
        • Mersin City Hospital, Pediatric Gastroenterology
      • Samsun, Turkey
        • Samsun Ondokuz Mayıs University Faculty of Medicine
      • Van, Turkey
        • SBU Van Regional Training and Research Hospital
      • Van, Turkey
        • Van 100. Yıl University School of Medicine
      • Zonguldak, Turkey
        • Bulent Ecevit University, Faculty of Medicine
      • Çorum, Turkey
        • Hitit University Education and Research Hospital
      • İzmir, Turkey
        • Dr. Behcet Uz Children's Hospital
      • İzmir, Turkey
        • Health Sciences University, İzmir Tepecik Training and Research Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 year to 16 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Boys and girls with unexplained transaminase elevation for at least 3 months

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
DMD and Pompe Disease Cohort
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
  • 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 1, 2019

Primary Completion (Actual)

January 30, 2022

Study Completion (Actual)

October 21, 2022

Study Registration Dates

First Submitted

October 7, 2019

First Submitted That Met QC Criteria

October 8, 2019

First Posted (Actual)

October 9, 2019

Study Record Updates

Last Update Posted (Actual)

October 24, 2022

Last Update Submitted That Met QC Criteria

October 21, 2022

Last Verified

May 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • VICTORIA

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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