A Multicenter Selective Screening Study to Investigate the Frequency of Neuronal Ceroid Li
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
| Condition(s) | Neuronal Ceroid Lipofuxinosis Type2 (CLN2) |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| 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. |
| Who can participate | Inclusion Criteria: * Girls and boys aged 6 years old * Having a history of at least one seizure * With a history of idiopathic seizures; * Speech disorder or regression in acquired speaking skills, * Motor dysfunctions, * Photoparoxysmal response to EEG with low-frequency IFS, * Observation of at least one of the symptoms or signs of cerebral atrophy or preventive white matter hyperintensity on MRI * Without hypoxic ischemic encephalopathy, head trauma and developmental brain anomalies * Not having been previously diagnosed with CLN2 * The patient and/or his/her legal representative must be willing to sign the written consent form. Exclusion Criteria: * Patients younger than 2 years and older than 6 years * Patients with a known or diagnosed neurodegenerative disorder * Patients for whom |
| Ages | 2 Years to 6 Years |
| Sex | All |
| Lead sponsor | Nadir Hastalıkları Araştırma Derneği |
| Locations | Adana, Turkey (Türkiye); Adana, Turkey (Türkiye); Adana, Turkey (Türkiye); Adana, Turkey (Türkiye); Adana, Turkey (Türkiye); Adana, Turkey (Türkiye) (+28 more sites) |
| Start date | 2023-09-06 |
| NCT ID | NCT06128226 |
| Official listing | https://clinicaltrials.gov/study/NCT06128226 |