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Clinical Trial NCT06128226 (ENIGMA) for Neuronal Ceroid Lipofuxinosis Type2 (CLN2) is recruiting. See the Trial Radar Card View and AI discovery tools for all the details. Or ask anything here. | ||
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A Multicenter Selective Screening Study to Investigate the Frequency of Neuronal Ceroid Lipofuxinosis Type 2 (CLN2) (ENIGMA) 750 Pediatric
Clinical Trial NCT06128226 (ENIGMA) is an observational study for Neuronal Ceroid Lipofuxinosis Type2 (CLN2) that is recruiting. It started on 6 September 2023 with plans to enroll 750 participants. Led by Nadir Hastalıkları Araştırma Derneği, it is expected to complete by 1 March 2025. The latest data from ClinicalTrials.gov was last updated on 15 November 2024.
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 ence...
Show MoreDetailed 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 assessments of language development; physical examination information including assessments of muscle strength, gait, and coordination; Data on neurological evaluation results and visual ability evaluations, such as Electro...Show More
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
Conditions
Neuronal Ceroid Lipofuxinosis Type2 (CLN2)Other Study IDs
- ENIGMA
- K-AO003-ENIGMA
NCT ID Number
Start Date (Actual)
2023-09-06
Last Update Posted
2024-11-15
Completion Date (Estimated)
2025-03
Enrollment (Estimated)
750
Study Type
Observational
Status
Recruiting
Keywords
Neuronal
Genetics
Metabolism
Rare
Genetics
Metabolism
Rare
Arms / Interventions
| Participant Group/Arm | Intervention/Treatment |
|---|---|
N/A | 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. |
Primary Outcome Measures
| Outcome Measure | Measure Description | Time Frame |
|---|---|---|
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 |
Participation Assistant
Eligibility Criteria
Eligible Ages
Child
Minimum Age
2 Years
Eligible Sexes
All
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.
- 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
Nadir Hastalıkları Araştırma DerneğiStudy Central Contact
Contact: Güneş Oymak, 0090 533 229 97 21, [email protected]
34 Study Locations in 1 Countries
Adana City Hospital, Pediatric Metabolism, Adana, Turkey (Türkiye)
Merve Yoldaş Çelik, Contact
Recruiting
Adana City Hospital, Pediatric Neurology, Adana, Turkey (Türkiye)
Habibe Koç Uçar, Contact
Recruiting
Adana Medical Park Hospital, Pediatric Neurology, Adana, Turkey (Türkiye)
Leman Tekin Ongun, Contact
Recruiting
Adana Şehir Hastanesi, Developmental Pediatrics, Adana, Turkey (Türkiye)
Halise Metin Baz, Contact
Recruiting
Başkent University School of Medicine, petiatric Metabolism, Adana, Turkey (Türkiye)
İlknur Erol, Contact
Recruiting
Seyhan State Hospital, Pediatric Neurology, Adana, Turkey (Türkiye)
Neslihan Özcan, Contact
Recruiting
Çukurova University School of Medicine, Pediatric Metabolism, Adana, Turkey (Türkiye)
Neslihan Önenli Mungan, Contact
Recruiting
Çukurova University School of Medicine, Pediatric Neurology, Adana, Turkey (Türkiye)
Mihriban Özlem Hergüner, Contact
Recruiting
Batman Medical Point Hospital, Pediatric Neurology, Batman, Turkey (Türkiye)
Cahide Aslan, Contact
Recruiting
Batman Training and Research Hospital, Pediatric Neurology, Batman, Turkey (Türkiye)
Burçin Gönüllü Polat, Contact
Recruiting
Dicle University School of Medicine, Pediatric Neurology, Diyarbakır, Turkey (Türkiye)
Rojan İpek, Contact
Recruiting
Diyarbakır Gazi Yaşargil Training and Research Hospital, Developmental Pediatrics, Diyarbakır, Turkey (Türkiye)
Şenay Güven Baysal, Contact
Recruiting
Diyarbakır Gazi Yaşargil Training and Research Hospital, Pediatric Neurology, Diyarbakır, Turkey (Türkiye)
Seren Aydın, Contact
Recruiting
Elazığ Fethi Tekin City Hospital, Elâzığ, Turkey (Türkiye)
Serkan Kırık, Contact
Recruiting
Fırat University School of Medicine, Pediatric Metabolism, Elâzığ, Turkey (Türkiye)
Abdurrahman Akgün, Contact
Recruiting
Gaziantep Cengiz Göçek Child's Hospital, Developmental Pediatrics, Gaziantep, Turkey (Türkiye)
Ayşen Akbaş, Contact
Recruiting
Gaziantep Cengiz Göçek Child's Hospital, Pediatric Metabolism, Gaziantep, Turkey (Türkiye)
Duhan Hopurcuoğlu, Contact
Recruiting
Gaziantep Cengiz Göçek Child's Hospital, Pediatric Neurology, Gaziantep, Turkey (Türkiye)
Esra Ülgen Temel, Contact
Recruiting
Gaziantep University School of Medicine, Pediatric Neurology, Gaziantep, Turkey (Türkiye)
Ayşe Aysima Özçelik, Contact
Recruiting
Hatay Training and Research Hospital, Pediatric Neurology, Hatay, Turkey (Türkiye)
Fatma Kaya, Contact
Recruiting
Necip Fazıl City Hospital, Pediatric Neurology, Kahramanmaraş, Turkey (Türkiye)
Nihal Yıldız, Contact
Recruiting
Sütçü İmam University School of Medicine, Pediatric Neurology, Kahramanmaraş, Turkey (Türkiye)
Cengiz Dilber, Contact
Recruiting
Malatya İnönü University School of Medicine, Developmental Pediatrics, Malatya, Turkey (Türkiye)
Derya Doğan, Contact
Recruiting
Malatya İnönü University School of Medicine, Pediatric Neurology, Malatya, Turkey (Türkiye)
Gül Yücel, Contact
Recruiting
Malatya Training and Reserach Hospital, Pediatric Neurology, Malatya, Turkey (Türkiye)
Meral Karadağ, Contact
Recruiting
Mardin Artuklu University School of Medicine, Pediartic Endocrinology, Mardin, Turkey (Türkiye)
Mehmet Nuri Özbek, Contact
Recruiting
Mardin Artuklu University School of Medicine, Pediatric Neurology, Mardin, Turkey (Türkiye)
Nezir Özgün, Contact
Recruiting
Mersin City Hospital, Pediatric Metabolism, Mersin, Turkey (Türkiye)
Ayça Aydoğan, Contact
Recruiting
Mersin City Hospital, Pediatric Neurology, Mersin, Turkey (Türkiye)
Özlem Ersoy, Contact
Recruiting
Mersin City Hospital, Mersin, Turkey (Türkiye)
Evin İlter Bahadur, Contact
Recruiting
Mersin University School of Medicine, Pediatric eurology, Mersin, Turkey (Türkiye)
Çetin Okuyaz, Contact
Recruiting
Şanluurfa Harran University School of Medicine, Pediatric Metabolism, Sanliurfa, Turkey (Türkiye)
Seda Güneş, Contact
Recruiting
Şanlıurfa Training and Research Hospital, Pediatric Neurology, Sanliurfa, Turkey (Türkiye)
Celil Yılmaz, Contact
Recruiting
Van Regional Training and Research Hospital, Van, Turkey (Türkiye)
Nihal Aydın, Contact
Recruiting