Clinical trial NCT04120168: Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease
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
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Duchenne Muscular Dystrophy
Pompe Disease (Late-onset)
Keywords: CPK
Transaminase
DMD
Pompe
Lead sponsor: Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition
Sponsor class: OTHER
First posted: 2019-10-09
Enrollment: 590
Sex: ALL
Minimum age (years): 3
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Boys and girls with unexplained transaminase elevation for at least 3 months

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.


Eligibility criteria: 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

Primary outcomes:
measure: Frequency of Duchenne muscular dystrophin in boys and adolescents
timeFrame: 1 year
Secondary outcomes:
Other outcomes:
Locations:
city: Adana
country: Turkey
facility: Adana City Hospital
city: Adana
country: Turkey
facility: Baskent University Adana Hospital
city: Adana
country: Turkey
facility: Çukurova University Faculty of Medicine, Pediatric Gastroenterology
city: Afyon
country: Turkey
facility: Afyonkarahisar Health Sciences University
city: Ankara
country: Turkey
facility: Ankara Hospital
city: Ankara
country: Turkey
facility: Ankara University Faculty of Medicine, Pediatric Gastroenterology
city: Ankara
country: Turkey
facility: Ankara Yıldırım Beyazıt University, Yenimahalle Training and Research Hospital
city: Ankara
country: Turkey
facility: Baskent University Faculty of Medicine, Department of Pediatric Gastroenterology
city: Ankara
country: Turkey
facility: Gazi University Faculty of Medicine, Pediatric Gastroenterology
city: Ankara
country: Turkey
facility: Gülhane Training and Research Hospital
city: Ankara
country: Turkey
facility: Hacettepe University Faculty of Medicine, Pediatric Gastroenterology
city: Ankara
country: Turkey
facility: Keçiören Training and Research Hospital
city: Antalya
country: Turkey
facility: SBU Antalya Training and Research Hospital
city: Bursa
country: Turkey
facility: Bursa Yüksek İhtisas Training and Research Hospital
city: Bursa
country: Turkey
facility: Fatih Ünal, Bursa (Pediatric Gastroenterology Specialist)
city: Bursa
country: Turkey
facility: Uludag University, Faculty of Medicine, Pediatric Gastroenterology
city: Denizli
country: Turkey
facility: Pamukkale University School of Medicine
city: Elazığ
country: Turkey
facility: Fırat University Faculty of Medicine, Pediatric Gastroenterology
city: Erzurum
country: Turkey
facility: Atatürk University School of Medicine
city: Eskişehir
country: Turkey
facility: Eskisehir Osmangazi University School of Medicine, Pediatric Gastroenterology
city: Gaziantep
country: Turkey
facility: Gaziantep University School of Medicine
city: Isparta
country: Turkey
facility: Isparta City Hospital
city: Isparta
country: Turkey
facility: Süleyman Demirel University Faculty of Medicine
city: Istanbul
country: Turkey
facility: Biruni University School of Medicine
city: Istanbul
country: Turkey
facility: Health Sciences University Istanbul Umraniye Health Application and Research Center
city: Istanbul
country: Turkey
facility: Health Sciences University Şişli Etfal Training and Research Hospital
city: Istanbul
country: Turkey
facility: Istanbul Altunizade Acıbadem Hospital
city: Istanbul
country: Turkey
facility: İstanbul Bakırköy Sadi Konuk Training and Research Hospital
city: Istanbul
country: Turkey
facility: Istanbul Haseki Training and Research Hospital
city: Istanbul
country: Turkey
facility: Istanbul Medeniyet University School of Medicine
city: Istanbul
country: Turkey
facility: Istanbul Okmeydani Training and Research Hospital
city: Istanbul
country: Turkey
facility: Istinye University Faculty of Medicine
city: Istanbul
country: Turkey
facility: Kanuni Sultan Süleyman Training and Research Hospital
city: Istanbul
country: Turkey
facility: Koç University Hospital
city: Istanbul
country: Turkey
facility: Marmara University School of Medicine, Pediatric Gastroenterology
city: Istanbul
country: Turkey
facility: Medipol University, Istanbul
city: Istanbul
country: Turkey
facility: Yeditepe University Faculty of Medicine, Department of Pediatric Gastroenterology
city: İzmir
country: Turkey
facility: Dr. Behçet Uz Children's Hospital
city: İzmir
country: Turkey
facility: Health Sciences University, İzmir Tepecik Training and Research Hospital
city: Karabük
country: Turkey
facility: Karabuk University Faculty of Medicine
city: Kayseri
country: Turkey
facility: Erciyes University School of Medicine, Pediatric Gasrtroenterology
city: Kocaeli
country: Turkey
facility: Kocaeli University School of Medicine
city: Konya
country: Turkey
facility: Selcuk University Faculty of Medicine, Pediatric Gastroenterology
city: Malatya
country: Turkey
facility: Inonu University School of Medicine, Pediatric Gastroenterology
city: Malatya
country: Turkey
facility: Malatya Training and Research Hospital
city: Mersin
country: Turkey
facility: Mersin City Hospital, Pediatric Gastroenterology
city: Samsun
country: Turkey
facility: Samsun Ondokuz Mayıs University Faculty of Medicine
city: Van
country: Turkey
facility: SBU Van Regional Training and Research Hospital
city: Van
country: Turkey
facility: Van 100. Yıl University School of Medicine
city: Zonguldak
country: Turkey
facility: Bulent Ecevit University, Faculty of Medicine
city: Çorum
country: Turkey
facility: Hitit University Education and Research Hospital
Study officials:
References: