Trials Sponsors Conditions Drugs Pricing

Conditions

Neuronal Ceroid Lipofuxinosis Type2 (CLN2)

Keywords

NeuronalGeneticsMetabolismRare

Outcome Measures

Primary Outcomes (1)

Disease Frequency
To determine the frequency of Neuronal Ceroid Lipofuxinosis type 2 (CLN2) disease and to determine the demographic and clinical characteristics of these patients.
1 year

Interventions

Blood SamplingGenetic

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.

Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.

Eligibility Criteria

Age2 Years - 6 Years

Sexall

Age GroupsChild (0-17)

Sampling MethodProbability 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.

You may qualify if:

Girls and boys aged 6 years old

Sponsors & Collaborators

Nadir Hastalıkları Araştırma Derneği
Otherlead

Study Sites (34)

Adana City Hospital, Pediatric Metabolism

Adana, Turkey (Türkiye)

RECRUITING

Merve Yoldaş ÇelikCONTACT

Adana City Hospital, Pediatric Neurology

Adana, Turkey (Türkiye)

RECRUITING

Habibe Koç UçarCONTACT

Adana Medical Park Hospital, Pediatric Neurology

Adana, Turkey (Türkiye)

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

MeSH Terms

Interventions

Blood Specimen Collection

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Central Study Contacts

Güneş Oymak

CONTACT

0090 533 229 97 21 goymak@gnscorporate.com

Study Design

Study Type: observational
Observational Model: COHORT
Time Perspective: PROSPECTIVE
Sponsor Type: OTHER
Responsible Party: SPONSOR

Study Record Dates

First Submitted

November 7, 2023

First Posted

November 13, 2023

Study Start

September 6, 2023

Actual (reported)

Primary Completion

January 2025

Estimated (date passed)

This estimate has passed. The registry has not confirmed an actual date for this milestone.

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

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (34)

Biospecimen

MeSH Terms

Interventions

Intervention Hierarchy (Ancestors)

Central Study Contacts

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (34)

Biospecimen

MeSH Terms

Interventions

Intervention Hierarchy (Ancestors)

Central Study Contacts

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Locations