Status:
RECRUITING
A Multicenter Selective Screening Study to Investigate the Frequency of Neuronal Ceroid Lipofuxinosis Type 2 (CLN2)
Lead Sponsor:
Nadir Hastalıkları Araştırma Derneği
Conditions:
Neuronal Ceroid Lipofuxinosis Type2 (CLN2)
Eligibility:
All Genders
2-6 years
Brief 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 Neu...
Detailed Description
Demographic data, medical history and family history of the patients included in the study will be recorded at their first admission. In addition, seizure frequency; cognitive functions, including ass...
Eligibility Criteria
Inclusion
- 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
- Patients younger than 2 years and older than 6 years
- Patients with a known or diagnosed neurodegenerative disorder
- Patients for whom written consent form cannot be obtained from their legal representative
Key Trial Info
Start Date :
September 6 2023
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
March 1 2025
Estimated Enrollment :
750 Patients enrolled
Trial Details
Trial ID
NCT06128226
Start Date
September 6 2023
End Date
March 1 2025
Last Update
November 15 2024
Active Locations (34)
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1
Adana City Hospital, Pediatric Metabolism
Adana, Turkey (Türkiye)
2
Adana City Hospital, Pediatric Neurology
Adana, Turkey (Türkiye)
3
Adana Medical Park Hospital, Pediatric Neurology
Adana, Turkey (Türkiye)
4
Adana Şehir Hastanesi, Developmental Pediatrics
Adana, Turkey (Türkiye)