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

CompletedOBSERVATIONAL
Enrollment

590

Participants

Timeline

Start Date

April 1, 2019

Primary Completion Date

January 30, 2022

Study Completion Date

October 21, 2022

Conditions
Duchenne Muscular DystrophyPompe Disease (Late-onset)
Interventions
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."

Trial Locations (51)

Unknown

Adana City Hospital, Adana

Baskent University Adana Hospital, Adana

Çukurova University Faculty of Medicine, Pediatric Gastroenterology, Adana

Afyonkarahisar Health Sciences University, Afyonkarahisar

Ankara Hospital, Ankara

Ankara University Faculty of Medicine, Pediatric Gastroenterology, Ankara

Ankara Yıldırım Beyazıt University, Yenimahalle Training and Research Hospital, Ankara

Baskent University Faculty of Medicine, Department of Pediatric Gastroenterology, Ankara

Gazi University Faculty of Medicine, Pediatric Gastroenterology, Ankara

Gülhane Training and Research Hospital, Ankara

Hacettepe University Faculty of Medicine, Pediatric Gastroenterology, Ankara

Keçiören Training and Research Hospital, Ankara

SBU Antalya Training and Research Hospital, Antalya

Bursa Yüksek İhtisas Training and Research Hospital, Bursa

Fatih Ünal, Bursa (Pediatric Gastroenterology Specialist), Bursa

Uludag University, Faculty of Medicine, Pediatric Gastroenterology, Bursa

Hitit University Education and Research Hospital, Çorum

Pamukkale University School of Medicine, Denizli

Fırat University Faculty of Medicine, Pediatric Gastroenterology, Elâzığ

Atatürk University School of Medicine, Erzurum

Eskisehir Osmangazi University School of Medicine, Pediatric Gastroenterology, Eskişehir

Gaziantep University School of Medicine, Gaziantep

Isparta City Hospital, Isparta

Süleyman Demirel University Faculty of Medicine, Isparta

Biruni University School of Medicine, Istanbul

Health Sciences University Istanbul Umraniye Health Application and Research Center, Istanbul

Health Sciences University Şişli Etfal Training and Research Hospital, Istanbul

Istanbul Altunizade Acıbadem Hospital, Istanbul

Istanbul Haseki Training and Research Hospital, Istanbul

Istanbul Medeniyet University School of Medicine, Istanbul

Istanbul Okmeydani Training and Research Hospital, Istanbul

Istinye University Faculty of Medicine, Istanbul

İstanbul Bakırköy Sadi Konuk Training and Research Hospital, Istanbul

Kanuni Sultan Süleyman Training and Research Hospital, Istanbul

Koç University Hospital, Istanbul

Marmara University School of Medicine, Pediatric Gastroenterology, Istanbul

Medipol University, Istanbul, Istanbul

Yeditepe University Faculty of Medicine, Department of Pediatric Gastroenterology, Istanbul

Dr. Behçet Uz Children's Hospital, Izmir

Health Sciences University, İzmir Tepecik Training and Research Hospital, Izmir

Karabuk University Faculty of Medicine, Karabük

Erciyes University School of Medicine, Pediatric Gasrtroenterology, Kayseri

Kocaeli University School of Medicine, Kocaeli

Selcuk University Faculty of Medicine, Pediatric Gastroenterology, Konya

Inonu University School of Medicine, Pediatric Gastroenterology, Malatya

Malatya Training and Research Hospital, Malatya

Mersin City Hospital, Pediatric Gastroenterology, Mersin

Samsun Ondokuz Mayıs University Faculty of Medicine, Samsun

SBU Van Regional Training and Research Hospital, Van

Van 100. Yıl University School of Medicine, Van

Bulent Ecevit University, Faculty of Medicine, Zonguldak

All Listed Sponsors
lead

Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition

OTHER

NCT04120168 - Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease | Biotech Hunter | Biotech Hunter