Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease
VICTORIA
Multicenter Non-Drug Screening Study to Determine the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease in Children With Unexplained Transaminase Elevation
1 other identifier
observational
590
1 country
51
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Apr 2019
Typical duration for all trials
51 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
April 1, 2019
CompletedFirst Submitted
Initial submission to the registry
October 7, 2019
CompletedFirst Posted
Study publicly available on registry
October 9, 2019
CompletedPrimary Completion
Last participant's last visit for primary outcome
January 30, 2022
CompletedStudy Completion
Last participant's last visit for all outcomes
October 21, 2022
CompletedOctober 24, 2022
May 1, 2022
2.8 years
October 7, 2019
October 21, 2022
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Frequency of Duchenne muscular dystrophin in boys and adolescents
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
Study Arms (1)
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.
Interventions
* 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.
Eligibility Criteria
Boys and girls with unexplained transaminase elevation for at least 3 months
You may qualify if:
- 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
You may not qualify if:
- 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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (51)
Adana City Hospital
Adana, Turkey (Türkiye)
Baskent University Adana Hospital
Adana, Turkey (Türkiye)
Çukurova University Faculty of Medicine, Pediatric Gastroenterology
Adana, Turkey (Türkiye)
Afyonkarahisar Health Sciences University
Afyonkarahisar, Turkey (Türkiye)
Ankara Hospital
Ankara, Turkey (Türkiye)
Ankara University Faculty of Medicine, Pediatric Gastroenterology
Ankara, Turkey (Türkiye)
Ankara Yıldırım Beyazıt University, Yenimahalle Training and Research Hospital
Ankara, Turkey (Türkiye)
Baskent University Faculty of Medicine, Department of Pediatric Gastroenterology
Ankara, Turkey (Türkiye)
Gazi University Faculty of Medicine, Pediatric Gastroenterology
Ankara, Turkey (Türkiye)
Gülhane Training and Research Hospital
Ankara, Turkey (Türkiye)
Hacettepe University Faculty of Medicine, Pediatric Gastroenterology
Ankara, Turkey (Türkiye)
Keçiören Training and Research Hospital
Ankara, Turkey (Türkiye)
SBU Antalya Training and Research Hospital
Antalya, Turkey (Türkiye)
Bursa Yüksek İhtisas Training and Research Hospital
Bursa, Turkey (Türkiye)
Fatih Ünal, Bursa (Pediatric Gastroenterology Specialist)
Bursa, Turkey (Türkiye)
Uludag University, Faculty of Medicine, Pediatric Gastroenterology
Bursa, Turkey (Türkiye)
Hitit University Education and Research Hospital
Çorum, Turkey (Türkiye)
Pamukkale University School of Medicine
Denizli, Turkey (Türkiye)
Fırat University Faculty of Medicine, Pediatric Gastroenterology
Elâzığ, Turkey (Türkiye)
Atatürk University School of Medicine
Erzurum, Turkey (Türkiye)
Eskisehir Osmangazi University School of Medicine, Pediatric Gastroenterology
Eskişehir, Turkey (Türkiye)
Gaziantep University School of Medicine
Gaziantep, Turkey (Türkiye)
Isparta City Hospital
Isparta, Turkey (Türkiye)
Süleyman Demirel University Faculty of Medicine
Isparta, Turkey (Türkiye)
Biruni University School of Medicine
Istanbul, Turkey (Türkiye)
Health Sciences University Istanbul Umraniye Health Application and Research Center
Istanbul, Turkey (Türkiye)
Health Sciences University Şişli Etfal Training and Research Hospital
Istanbul, Turkey (Türkiye)
Istanbul Altunizade Acıbadem Hospital
Istanbul, Turkey (Türkiye)
Istanbul Haseki Training and Research Hospital
Istanbul, Turkey (Türkiye)
Istanbul Medeniyet University School of Medicine
Istanbul, Turkey (Türkiye)
Istanbul Okmeydani Training and Research Hospital
Istanbul, Turkey (Türkiye)
Istinye University Faculty of Medicine
Istanbul, Turkey (Türkiye)
İstanbul Bakırköy Sadi Konuk Training and Research Hospital
Istanbul, Turkey (Türkiye)
Kanuni Sultan Süleyman Training and Research Hospital
Istanbul, Turkey (Türkiye)
Koç University Hospital
Istanbul, Turkey (Türkiye)
Marmara University School of Medicine, Pediatric Gastroenterology
Istanbul, Turkey (Türkiye)
Medipol University, Istanbul
Istanbul, Turkey (Türkiye)
Yeditepe University Faculty of Medicine, Department of Pediatric Gastroenterology
Istanbul, Turkey (Türkiye)
Dr. Behçet Uz Children's Hospital
Izmir, Turkey (Türkiye)
Health Sciences University, İzmir Tepecik Training and Research Hospital
Izmir, Turkey (Türkiye)
Karabuk University Faculty of Medicine
Karabük, Turkey (Türkiye)
Erciyes University School of Medicine, Pediatric Gasrtroenterology
Kayseri, Turkey (Türkiye)
Kocaeli University School of Medicine
Kocaeli, Turkey (Türkiye)
Selcuk University Faculty of Medicine, Pediatric Gastroenterology
Konya, Turkey (Türkiye)
Inonu University School of Medicine, Pediatric Gastroenterology
Malatya, Turkey (Türkiye)
Malatya Training and Research Hospital
Malatya, Turkey (Türkiye)
Mersin City Hospital, Pediatric Gastroenterology
Mersin, Turkey (Türkiye)
Samsun Ondokuz Mayıs University Faculty of Medicine
Samsun, Turkey (Türkiye)
SBU Van Regional Training and Research Hospital
Van, Turkey (Türkiye)
Van 100. Yıl University School of Medicine
Van, Turkey (Türkiye)
Bulent Ecevit University, Faculty of Medicine
Zonguldak, Turkey (Türkiye)
Related Publications (1)
Kansu A, Kuloglu Z, Tumgor G, Taskin DG, Dalgic B, Caltepe G, Demiroren K, Dogan G, Tuna Kirsaclioglu C, Arslan D, Isik IA, Demir H, Bekem O, Sahin Y, Bayrak NA, Selimoglu MA, Yavuz S, Taskaya IE, Altay D; VICTORIA Study Group. The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study. Front Pediatr. 2023 Sep 25;11:1272177. doi: 10.3389/fped.2023.1272177. eCollection 2023.
PMID: 37818166DERIVED
Biospecimen
* 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.
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Design
- Study Type
- observational
- Observational Model
- OTHER
- Time Perspective
- PROSPECTIVE
- Target Duration
- 3 Months
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
October 7, 2019
First Posted
October 9, 2019
Study Start
April 1, 2019
Primary Completion
January 30, 2022
Study Completion
October 21, 2022
Last Updated
October 24, 2022
Record last verified: 2022-05
Data Sharing
- IPD Sharing
- Will not share