Screening Study to Find Frequency of Neuronal Ceroid Lipofuscinosis Type 2 CLN2 in Children Aged 2 to 6 with Seizures and Neurological Symptoms

What this Trial Is About

Researchers are investigating the frequency of Neuronal Ceroid Lipofusinosis Type 2 CLN2 in children aged 2 to 6 years who have nonspecific neurological symptoms such as idiopathic seizures, speech disorders, and motor dysfunctions. This multicenter, non-drug screening study focuses on children without hypoxic ischemic encephalopathy, head trauma, or developmental brain anomalies, aiming to better understand the demographic and clinical features of those with possible CLN2 disease. Children first undergo assessments including recording demographic and medical history, seizure frequency, cognitive and language development evaluations, physical exams assessing muscle strength, gait, and coordination, as well as neurological evaluations using EEG and MRI scans. Those showing specific signs like speech disorder with seizures, movement problems, particular EEG responses, or MRI findings will have blood samples taken to measure Tripeptidyl Peptidase 1 enzyme levels. If enzyme activity is low, genetic testing is performed to investigate CLN2 disease. Participants are involved for up to one year during which various clinical, neurological, and imaging evaluations are done. Blood samples are collected for enzyme and genetic analyses. The main outcome measured is the frequency of CLN2 disease in this group. The study tracks each childs symptoms, neurological findings, and imaging results to better identify and understand CLN2 in children with these symptoms.

A Multicenter Selective Screening Study to Investigate the Frequency of Neuronal Ceroid Lipofuxinosis Type 2 (CLN2)