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Screening for Neuronal Ceroid Lipofuscinosis Type 2 in Children

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

Observational Nadir Hastalıkları Araştırma Derneği · NCT06128226

This study is trying to find out how common Neuronal Ceroid Lipofuscinosis Type 2 is in young children with unclear neurological symptoms by checking their health and doing some tests.

Quick facts

Study typeObservational
Enrollment750 (estimated)
Ages2 Years to 6 Years
SexAll
SponsorNadir Hastalıkları Araştırma Derneği Academic / other
Locations34 sites (Adana and 33 other locations)
Trial IDNCT06128226 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates are children aged 2 to 6 with a history of seizures and non-specific neurological symptoms.

Not a fit: Patients with known neurodegenerative disorders or those outside the age range of 2 to 6 years will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to earlier diagnosis and better management of CLN2 in affected children.

How similar studies have performed: While similar studies on rare neurological conditions have shown promise, this specific approach to screening for CLN2 is novel.

Eligibility criteria

Show full inclusion / exclusion 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

Where this trial is running

Adana and 33 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Neuronal Ceroid Lipofuxinosis Type2NeuronalGeneticsMetabolismRare
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.