Clinical trial NCT06128226: A Multicenter Selective Screening Study to Investigate the Frequency of Neuronal Ceroid Lipofuxinosis Type 2 (CLN2)
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
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Neuronal Ceroid Lipofuxinosis Type2 (CLN2)
Keywords: Neuronal
Genetics
Metabolism
Rare
Lead sponsor: Nadir Hastalıkları Araştırma Derneği
Sponsor class: OTHER
First posted: 2023-11-13
Enrollment: 750
Sex: ALL
Minimum age (years): 2
Maximum age (years): 6
Standard ages: CHILD
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: 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.

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.

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 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 Electroencephalography (EEG) and Magnetic Resonance Imaging (MRI), will be collected. Following the above screenings, patients between the ages of 2-6 who show at least one of the following: speech disorder with idiopathic seizures/regression in acquired speech skills, symptoms of gait and movement disorders, or photoparoxysmal response to EEG with low-frequency IFS, cerebral atrophy or preventive white matter hyperintensity on MRI, Enzyme analysis and genetic tests will be performed on children to investigate CLN2 disease.The tests are written in detail below.

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.

Study endpoints are to determine the frequency of type 2 (CLN2) disease and to determine the demographic and clinical characteristics of these patients with neuronal ceroid lipofuscinosis who showed at least one of the following: speech impairment with idiopathic seizures/decline in acquired speech skills, symptoms of gait and movement disorders, or photoparoxysmal response to EEG with low-frequency IFS, cerebral atrophy or pretricular white matter hyperintensity on MRI.

Eligibility criteria: 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 written consent form cannot be obtained from their legal representative

Primary outcomes:
measure: Disease Frequency
timeFrame: 1 year
Secondary outcomes:
Other outcomes:
Locations:
city: Adana
country: Turkey
facility: Adana City Hospital, Pediatric Metabolism
city: Adana
country: Turkey
facility: Adana City Hospital, Pediatric Neurology
city: Adana
country: Turkey
facility: Adana Medical Park Hospital, Pediatric Neurology
city: Adana
country: Turkey
facility: Adana Şehir Hastanesi, Developmental Pediatrics
city: Adana
country: Turkey
facility: Başkent University School of Medicine, petiatric Metabolism
city: Adana
country: Turkey
facility: Seyhan State Hospital, Pediatric Neurology
city: Adana
country: Turkey
facility: Çukurova University School of Medicine, Pediatric Metabolism
city: Adana
country: Turkey
facility: Çukurova University School of Medicine, Pediatric Neurology
city: Batman
country: Turkey
facility: Batman Medical Point Hospital, Pediatric Neurology
city: Batman
country: Turkey
facility: Batman Training and Research Hospital, Pediatric Neurology
city: Diyarbakır
country: Turkey
facility: Dicle University School of Medicine, Pediatric Neurology
city: Diyarbakır
country: Turkey
facility: Diyarbakır Gazi Yaşargil Training and Research Hospital, Developmental Pediatrics
city: Diyarbakır
country: Turkey
facility: Diyarbakır Gazi Yaşargil Training and Research Hospital, Pediatric Neurology
city: Elazığ
country: Turkey
facility: Elazığ Fethi Tekin City Hospital
city: Elazığ
country: Turkey
facility: Fırat University School of Medicine, Pediatric Metabolism
city: Gaziantep
country: Turkey
facility: Gaziantep Cengiz Göçek Child's Hospital, Developmental Pediatrics
city: Gaziantep
country: Turkey
facility: Gaziantep Cengiz Göçek Child's Hospital, Pediatric Metabolism
city: Gaziantep
country: Turkey
facility: Gaziantep Cengiz Göçek Child's Hospital, Pediatric Neurology
city: Gaziantep
country: Turkey
facility: Gaziantep University School of Medicine, Pediatric Neurology
city: Hatay
country: Turkey
facility: Hatay Training and Research Hospital, Pediatric Neurology
city: Kahramanmaraş
country: Turkey
facility: Necip Fazıl City Hospital, Pediatric Neurology
city: Kahramanmaraş
country: Turkey
facility: Sütçü İmam University School of Medicine, Pediatric Neurology
city: Malatya
country: Turkey
facility: Malatya İnönü University School of Medicine, Developmental Pediatrics
city: Malatya
country: Turkey
facility: Malatya İnönü University School of Medicine, Pediatric Neurology
city: Malatya
country: Turkey
facility: Malatya Training and Reserach Hospital, Pediatric Neurology
city: Mardin
country: Turkey
facility: Mardin Artuklu University School of Medicine, Pediartic Endocrinology
city: Mardin
country: Turkey
facility: Mardin Artuklu University School of Medicine, Pediatric Neurology
city: Mersin
country: Turkey
facility: Mersin City Hospital, Pediatric Metabolism
city: Mersin
country: Turkey
facility: Mersin City Hospital, Pediatric Neurology
city: Mersin
country: Turkey
facility: Mersin City Hospital
city: Mersin
country: Turkey
facility: Mersin University School of Medicine, Pediatric eurology
city: Van
country: Turkey
facility: Van Regional Training and Research Hospital
city: Şanlıurfa
country: Turkey
facility: Şanluurfa Harran University School of Medicine, Pediatric Metabolism
city: Şanlıurfa
country: Turkey
facility: Şanlıurfa Training and Research Hospital, Pediatric Neurology
Study officials:
References: