Screening for Neuronal Ceroid Lipofuscinosis Type 2 in Children

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This multicenter observational study aims to investigate the frequency of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) in children aged 2 to 6 who present with non-specific neurological symptoms. Participants will be screened for various clinical signs, including seizures, speech disorders, and motor dysfunctions, and undergo neurological evaluations such as EEG and MRI. Blood samples will be collected for enzyme level measurement and genetic testing to confirm the diagnosis of CLN2. The study will last for 12 months and will gather demographic and clinical data to better understand this rare condition.

Why it matters

Who can join: the full rules

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

Where it's running

• Adana City Hospital, Pediatric Metabolism
  Adana, Turkey (Türkiye) Recruiting
• Adana City Hospital, Pediatric Neurology
  Adana, Turkey (Türkiye) Recruiting
• Adana Medical Park Hospital, Pediatric Neurology
  Adana, Turkey (Türkiye) Recruiting
• Adana Şehir Hastanesi, Developmental Pediatrics
  Adana, Turkey (Türkiye) Recruiting
• Başkent University School of Medicine, petiatric Metabolism
  Adana, Turkey (Türkiye) Recruiting
• Seyhan State Hospital, Pediatric Neurology
  Adana, Turkey (Türkiye) Recruiting

Study contacts

• Study coordinator: Güneş Oymak
• Email: goymak@gnscorporate.com
• Phone: 0090 533 229 97 21

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.