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A Multicenter Selective Screening Study to Investigate the Frequency of Neuronal Ceroid Lipofusinosis Type 2 (CLN2) in Children Aged 2 to 6 With Nonspecific Neurological Symptoms and Seizures
Led by Nadir Hastalıkları Araştırma Derneği · Updated on 2024-11-15
750
Participants Needed
34
Research Sites
8 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating the frequency of Neuronal Ceroid Lipofusinosis Type 2 (CLN2) in children aged 2 to 6 years who have nonspecific neurological symptoms such as idiopathic seizures, speech disorders, and motor dysfunctions. This multicenter, non-drug screening study focuses on children without hypoxic ischemic encephalopathy, head trauma, or developmental brain anomalies, aiming to better understand the demographic and clinical features of those with possible CLN2 disease. Children first undergo assessments including recording demographic and medical history, seizure frequency, cognitive and language development evaluations, physical exams assessing muscle strength, gait, and coordination, as well as neurological evaluations using EEG and MRI scans. Those showing specific signs like speech disorder with seizures, movement problems, particular EEG responses, or MRI findings will have blood samples taken to measure Tripeptidyl Peptidase 1 enzyme levels. If enzyme activity is low, genetic testing is performed to investigate CLN2 disease. Participants are involved for up to one year during which various clinical, neurological, and imaging evaluations are done. Blood samples are collected for enzyme and genetic analyses. The main outcome measured is the frequency of CLN2 disease in this group. The study tracks each child's symptoms, neurological findings, and imaging results to better identify and understand CLN2 in children with these symptoms.
CONDITIONS
Brief Title
A Multicenter Selective Screening Study to Investigate the Frequency of Neuronal Ceroid Lipofuxinosis Type 2 (CLN2)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Children aged 2 to 6 years
- History of at least one seizure
- Idiopathic seizures accompanied by speech disorder or regression in speaking skills, motor dysfunctions, photoparoxysmal response to EEG with low-frequency IFS, or signs of cerebral atrophy or white matter hyperintensity on MRI
- No history of hypoxic ischemic encephalopathy, head trauma, or developmental brain anomalies
- Not previously diagnosed with CLN2
- Willingness of patient or legal representative to sign written consent
You will not qualify if you...
- Younger than 2 years or older than 6 years
- Known or diagnosed neurodegenerative disorder
- Inability to obtain written consent from legal representative
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 1 year
Participants undergo neurological and visual assessments including EEG and MRI, along with blood sampling for enzyme level measurement and genetic testing if needed to investigate CLN2 disease.
1 to 2 visits depending on test results
Duration - Up to 1 year
Participants with neurological symptoms are observed to determine the frequency of CLN2 disease and to document clinical characteristics over time.
Follow-up visits as scheduled by the study
Trial Site Locations
Total: 34 locations
1
Adana City Hospital, Pediatric Metabolism
Adana, Turkey (Türkiye)
Actively Recruiting
2
Adana City Hospital, Pediatric Neurology
Adana, Turkey (Türkiye)
Actively Recruiting
3
Adana Medical Park Hospital, Pediatric Neurology
Adana, Turkey (Türkiye)
Actively Recruiting
4
Adana Şehir Hastanesi, Developmental Pediatrics
Adana, Turkey (Türkiye)
Actively Recruiting
5
Başkent University School of Medicine, petiatric Metabolism
Adana, Turkey (Türkiye)
Actively Recruiting
6
Seyhan State Hospital, Pediatric Neurology
Adana, Turkey (Türkiye)
Actively Recruiting
7
Çukurova University School of Medicine, Pediatric Metabolism
Adana, Turkey (Türkiye)
Actively Recruiting
8
Çukurova University School of Medicine, Pediatric Neurology
Adana, Turkey (Türkiye)
Actively Recruiting
9
Batman Medical Point Hospital, Pediatric Neurology
Batman, Turkey (Türkiye)
Actively Recruiting
10
Batman Training and Research Hospital, Pediatric Neurology
Batman, Turkey (Türkiye)
Actively Recruiting
11
Dicle University School of Medicine, Pediatric Neurology
Diyarbakır, Turkey (Türkiye)
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12
Diyarbakır Gazi Yaşargil Training and Research Hospital, Developmental Pediatrics
Diyarbakır, Turkey (Türkiye)
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13
Diyarbakır Gazi Yaşargil Training and Research Hospital, Pediatric Neurology
Diyarbakır, Turkey (Türkiye)
Actively Recruiting
14
Elazığ Fethi Tekin City Hospital
Elâzığ, Turkey (Türkiye)
Actively Recruiting
15
Fırat University School of Medicine, Pediatric Metabolism
Elâzığ, Turkey (Türkiye)
Actively Recruiting
16
Gaziantep Cengiz Göçek Child's Hospital, Developmental Pediatrics
Gaziantep, Turkey (Türkiye)
Actively Recruiting
17
Gaziantep Cengiz Göçek Child's Hospital, Pediatric Metabolism
Gaziantep, Turkey (Türkiye)
Actively Recruiting
18
Gaziantep Cengiz Göçek Child's Hospital, Pediatric Neurology
Gaziantep, Turkey (Türkiye)
Actively Recruiting
19
Gaziantep University School of Medicine, Pediatric Neurology
Gaziantep, Turkey (Türkiye)
Actively Recruiting
20
Hatay Training and Research Hospital, Pediatric Neurology
Hatay, Turkey (Türkiye)
Actively Recruiting
21
Necip Fazıl City Hospital, Pediatric Neurology
Kahramanmaraş, Turkey (Türkiye)
Actively Recruiting
22
Sütçü İmam University School of Medicine, Pediatric Neurology
Kahramanmaraş, Turkey (Türkiye)
Actively Recruiting
23
Malatya İnönü University School of Medicine, Developmental Pediatrics
Malatya, Turkey (Türkiye)
Actively Recruiting
24
Malatya İnönü University School of Medicine, Pediatric Neurology
Malatya, Turkey (Türkiye)
Actively Recruiting
25
Malatya Training and Reserach Hospital, Pediatric Neurology
Malatya, Turkey (Türkiye)
Actively Recruiting
26
Mardin Artuklu University School of Medicine, Pediartic Endocrinology
Mardin, Turkey (Türkiye)
Actively Recruiting
27
Mardin Artuklu University School of Medicine, Pediatric Neurology
Mardin, Turkey (Türkiye)
Actively Recruiting
28
Mersin City Hospital, Pediatric Metabolism
Mersin, Turkey (Türkiye)
Actively Recruiting
29
Mersin City Hospital, Pediatric Neurology
Mersin, Turkey (Türkiye)
Actively Recruiting
30
Mersin City Hospital
Mersin, Turkey (Türkiye)
Actively Recruiting
31
Mersin University School of Medicine, Pediatric eurology
Mersin, Turkey (Türkiye)
Actively Recruiting
32
Şanluurfa Harran University School of Medicine, Pediatric Metabolism
Sanliurfa, Turkey (Türkiye)
Actively Recruiting
33
Şanlıurfa Training and Research Hospital, Pediatric Neurology
Sanliurfa, Turkey (Türkiye)
Actively Recruiting
34
Van Regional Training and Research Hospital
Van, Turkey (Türkiye)
Actively Recruiting
Research Team
G
Güneş Oymak
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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