A Multicenter Selective Screening Study to Investigate the Frequency of Neuronal Ceroid Lipofuxinosis Type 2 (CLN2)
ENIGMA
1 other identifier
observational
750
1 country
34
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 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Sep 2023
34 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
September 6, 2023
CompletedFirst Submitted
Initial submission to the registry
November 7, 2023
CompletedFirst Posted
Study publicly available on registry
November 13, 2023
CompletedPrimary Completion
Last participant's last visit for primary outcome
January 1, 2025
CompletedStudy Completion
Last participant's last visit for all outcomes
March 1, 2025
CompletedNovember 15, 2024
November 1, 2024
1.3 years
November 7, 2023
November 13, 2024
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Disease Frequency
To determine the frequency of Neuronal Ceroid Lipofuxinosis type 2 (CLN2) disease and to determine the demographic and clinical characteristics of these patients.
1 year
Interventions
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.
Eligibility Criteria
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.
You may qualify if:
- 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.
You may not qualify if:
- 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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (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)
Biospecimen
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.
MeSH Terms
Interventions
Intervention Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
November 7, 2023
First Posted
November 13, 2023
Study Start
September 6, 2023
Primary Completion
January 1, 2025
Study Completion
March 1, 2025
Last Updated
November 15, 2024
Record last verified: 2024-11
Data Sharing
- IPD Sharing
- Will not share