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

Duchenne Muscular Dystrophy Clinical Trial

— VICTORIA  

Official 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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04120168
• Other study ID #: VICTORIA
• Status: Completed
• Start date: April 1, 2019
• Est. completion date: October 21, 2022

Study information

• Verified date: May 2022
• Source: Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 590
• Est. completion date: October 21, 2022
• Est. primary completion date: January 30, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 3 Months to 18 Years

Eligibility

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

Related Conditions & MeSH terms

• Duchenne Muscular Dystrophy
• Glycogen Storage Disease Type II
• Muscular Dystrophies
• Muscular Dystrophy, Duchenne
• Pompe Disease (Late-onset)

Intervention

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.

Locations

Country	Name	City	State
Turkey	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 Yildirim Beyazit 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	Hacettepe University Faculty of Medicine, Pediatric Gastroenterology	Ankara
Turkey	Keçiören Training and Research Hospital	Ankara
Turkey	SBU Antalya Training and Research Hospital	Antalya
Turkey	Bursa Yüksek Ihtisas Training and Research Hospital	Bursa
Turkey	Fatih Ünal, Bursa (Pediatric Gastroenterology Specialist)	Bursa
Turkey	Uludag University, Faculty of Medicine, Pediatric Gastroenterology	Bursa
Turkey	Hitit University Education and Research Hospital	Çorum
Turkey	Pamukkale University School of Medicine	Denizli
Turkey	Firat University Faculty of Medicine, Pediatric Gastroenterology	Elazig
Turkey	Atatürk University School of Medicine	Erzurum
Turkey	Eskisehir Osmangazi University School of Medicine, Pediatric Gastroenterology	Eskisehir
Turkey	Gaziantep University School of Medicine	Gaziantep
Turkey	Isparta City Hospital	Isparta
Turkey	Süleyman Demirel University Faculty of Medicine	Isparta
Turkey	Biruni University School of Medicine	Istanbul
Turkey	Health Sciences University Istanbul Umraniye Health Application and Research Center	Istanbul
Turkey	Health Sciences University Sisli Etfal Training and Research Hospital	Istanbul
Turkey	Istanbul Altunizade Acibadem Hospital	Istanbul
Turkey	Istanbul Bakirköy 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 Süleyman Training and Research Hospital	Istanbul
Turkey	Koç 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	Istanbul
Turkey	Dr. Behçet Uz Children's Hospital	Izmir
Turkey	Health Sciences University, Izmir Tepecik Training and Research Hospital	Izmir
Turkey	Karabuk University Faculty of Medicine	Karabük
Turkey	Erciyes University School of Medicine, Pediatric Gasrtroenterology	Kayseri
Turkey	Kocaeli University School of Medicine	Kocaeli
Turkey	Selcuk University Faculty of Medicine, Pediatric Gastroenterology	Konya
Turkey	Inonu University School of Medicine, Pediatric Gastroenterology	Malatya
Turkey	Malatya Training and Research Hospital	Malatya
Turkey	Mersin City Hospital, Pediatric Gastroenterology	Mersin
Turkey	Samsun Ondokuz Mayis University Faculty of Medicine	Samsun
Turkey	SBU Van Regional Training and Research Hospital	Van
Turkey	Van 100. Yil University School of Medicine	Van
Turkey	Bulent Ecevit University, Faculty of Medicine	Zonguldak

Sponsors (1)

Lead Sponsor	Collaborator
Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition

Country where clinical trial is conducted

Turkey, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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