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A Multicenter Selective Screening Study to Investigate the Frequency of Neuronal Ceroid Lipofuxinosis Type 2 (CLN2)
Sponsor: Nadir Hastalıkları Araştırma Derneği
Summary
This study is a multicenter, non-drug screening study. Enrollment period is 12 months. There are no IMP to be followed or used in the study. Patients who applied to Pediatric Metabolism, Pediatric Neurology and Developmental Pediatrics clinics with the symptoms or findings defined in the protocol as below for 12 months will be included in the study. Children between the ages of 2 and 6, without hypoxic ischemic encephalopathy, head trauma and developmental brain anomalies, who are admitted to the Pediatric Metabolism, Pediatric Neurology and Developmental Pediatrics clinics with non-specific neurological symptoms such as idiopathic seizures of unknown etiology, speech disorders and motor dysfunctions, will constitute the target population of the study.
Official title: A Multicenter Selective Screening Study to Investigate the Frequency of Neuronal Ceroid Lipofuxinosis Type 2 (CLN2) in the Presence of Nonspecific Neurological Findings Accompanying Seizures Between the Ages of 2 and 6
Key Details
Gender
All
Age Range
2 Years - 6 Years
Study Type
OBSERVATIONAL
Enrollment
750
Start Date
2023-09-06
Completion Date
2025-03
Last Updated
2024-11-15
Healthy Volunteers
Not specified
Interventions
Blood Sampling
For Tripeptidyl Peptidase 1 enzyme level measurement, blood will be taken from the patient into a 5 mL EDTA tube at Gazi University Faculty of Medicine, Metabolism Laboratory, and for patients with low enzyme activity, the genetic evaluation test will be performed with whole blood at the Gene2Info Laboratory.
Locations (34)
Adana City Hospital, Pediatric Metabolism
Adana, Turkey (Türkiye)
Adana City Hospital, Pediatric Neurology
Adana, Turkey (Türkiye)
Adana Medical Park Hospital, Pediatric Neurology
Adana, Turkey (Türkiye)
Adana Şehir Hastanesi, Developmental Pediatrics
Adana, Turkey (Türkiye)
Başkent University School of Medicine, petiatric Metabolism
Adana, Turkey (Türkiye)
Seyhan State Hospital, Pediatric Neurology
Adana, Turkey (Türkiye)
Çukurova University School of Medicine, Pediatric Metabolism
Adana, Turkey (Türkiye)
Çukurova University School of Medicine, Pediatric Neurology
Adana, Turkey (Türkiye)
Batman Medical Point Hospital, Pediatric Neurology
Batman, Turkey (Türkiye)
Batman Training and Research Hospital, Pediatric Neurology
Batman, Turkey (Türkiye)
Dicle University School of Medicine, Pediatric Neurology
Diyarbakır, Turkey (Türkiye)
Diyarbakır Gazi Yaşargil Training and Research Hospital, Developmental Pediatrics
Diyarbakır, Turkey (Türkiye)
Diyarbakır Gazi Yaşargil Training and Research Hospital, Pediatric Neurology
Diyarbakır, Turkey (Türkiye)
Elazığ Fethi Tekin City Hospital
Elâzığ, Turkey (Türkiye)
Fırat University School of Medicine, Pediatric Metabolism
Elâzığ, Turkey (Türkiye)
Gaziantep Cengiz Göçek Child's Hospital, Developmental Pediatrics
Gaziantep, Turkey (Türkiye)
Gaziantep Cengiz Göçek Child's Hospital, Pediatric Metabolism
Gaziantep, Turkey (Türkiye)
Gaziantep Cengiz Göçek Child's Hospital, Pediatric Neurology
Gaziantep, Turkey (Türkiye)
Gaziantep University School of Medicine, Pediatric Neurology
Gaziantep, Turkey (Türkiye)
Hatay Training and Research Hospital, Pediatric Neurology
Hatay, Turkey (Türkiye)
Necip Fazıl City Hospital, Pediatric Neurology
Kahramanmaraş, Turkey (Türkiye)
Sütçü İmam University School of Medicine, Pediatric Neurology
Kahramanmaraş, Turkey (Türkiye)
Malatya İnönü University School of Medicine, Developmental Pediatrics
Malatya, Turkey (Türkiye)
Malatya İnönü University School of Medicine, Pediatric Neurology
Malatya, Turkey (Türkiye)
Malatya Training and Reserach Hospital, Pediatric Neurology
Malatya, Turkey (Türkiye)
Mardin Artuklu University School of Medicine, Pediartic Endocrinology
Mardin, Turkey (Türkiye)
Mardin Artuklu University School of Medicine, Pediatric Neurology
Mardin, Turkey (Türkiye)
Mersin City Hospital, Pediatric Metabolism
Mersin, Turkey (Türkiye)
Mersin City Hospital, Pediatric Neurology
Mersin, Turkey (Türkiye)
Mersin City Hospital
Mersin, Turkey (Türkiye)
Mersin University School of Medicine, Pediatric eurology
Mersin, Turkey (Türkiye)
Şanluurfa Harran University School of Medicine, Pediatric Metabolism
Sanliurfa, Turkey (Türkiye)
Şanlıurfa Training and Research Hospital, Pediatric Neurology
Sanliurfa, Turkey (Türkiye)
Van Regional Training and Research Hospital
Van, Turkey (Türkiye)