MedTrace Logo

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

NCT06128226 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 750

Last updated 2024-11-15

No results posted yet for this study

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.

Conditions

  • Neuronal Ceroid Lipofuxinosis Type2 (CLN2)

Interventions

GENETIC

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.

Sponsors & Collaborators

  • Nadir Hastalıkları Araştırma Derneği

    lead OTHER

Eligibility

Min Age
2 Years
Max Age
6 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-09-06
Primary Completion
2025-01-31
Completion
2025-03-31

Countries

  • Turkey (Türkiye)

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06128226 on ClinicalTrials.gov