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

November 13, 2024 updated by: Nadir Hastalıkları Araştırma Derneği

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

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

Demographic data, medical history and family history of the patients included in the study will be recorded at their first admission. In addition, seizure frequency; cognitive functions, including assessments of language development; physical examination information including assessments of muscle strength, gait, and coordination; Data on neurological evaluation results and visual ability evaluations, such as Electroencephalography (EEG) and Magnetic Resonance Imaging (MRI), will be collected. Following the above screenings, patients between the ages of 2-6 who show at least one of the following: speech disorder with idiopathic seizures/regression in acquired speech skills, symptoms of gait and movement disorders, or photoparoxysmal response to EEG with low-frequency IFS, cerebral atrophy or preventive white matter hyperintensity on MRI, Enzyme analysis and genetic tests will be performed on children to investigate CLN2 disease.The tests are written in detail below.

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.

Study endpoints are to determine the frequency of type 2 (CLN2) disease and to determine the demographic and clinical characteristics of these patients with neuronal ceroid lipofuscinosis who showed at least one of the following: speech impairment with idiopathic seizures/decline in acquired speech skills, symptoms of gait and movement disorders, or photoparoxysmal response to EEG with low-frequency IFS, cerebral atrophy or pretricular white matter hyperintensity on MRI.

Study Type

Observational

Enrollment (Estimated)

750

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Turkey
      • Adana, Turkey
        • Recruiting
        • Adana City Hospital, Pediatric Metabolism
        • Contact:
          • Merve Yoldaş Çelik
      • Adana, Turkey
        • Recruiting
        • Adana City Hospital, Pediatric Neurology
        • Contact:
          • Habibe Koç Uçar
      • Adana, Turkey
        • Recruiting
        • Adana Medical Park Hospital, Pediatric Neurology
        • Contact:
          • Leman Tekin Ongun
      • Adana, Turkey
        • Recruiting
        • Adana Şehir Hastanesi, Developmental Pediatrics
        • Contact:
          • Halise Metin Baz
      • Adana, Turkey
        • Recruiting
        • Başkent University School of Medicine, petiatric Metabolism
        • Contact:
          • İlknur Erol
      • Adana, Turkey
        • Recruiting
        • Seyhan State Hospital, Pediatric Neurology
        • Contact:
          • Neslihan Özcan
      • Adana, Turkey
        • Recruiting
        • Çukurova University School of Medicine, Pediatric Metabolism
        • Contact:
          • Neslihan Önenli Mungan
      • Adana, Turkey
        • Recruiting
        • Çukurova University School of Medicine, Pediatric Neurology
        • Contact:
          • Mihriban Özlem Hergüner
      • Batman, Turkey
        • Recruiting
        • Batman Medical Point Hospital, Pediatric Neurology
        • Contact:
          • Cahide Aslan
      • Batman, Turkey
        • Recruiting
        • Batman Training and Research Hospital, Pediatric Neurology
        • Contact:
          • Burçin Gönüllü Polat
      • Diyarbakır, Turkey
        • Recruiting
        • Dicle University School of Medicine, Pediatric Neurology
        • Contact:
          • Rojan İpek
      • Diyarbakır, Turkey
        • Recruiting
        • Diyarbakır Gazi Yaşargil Training and Research Hospital, Developmental Pediatrics
        • Contact:
          • Şenay Güven Baysal
      • Diyarbakır, Turkey
        • Recruiting
        • Diyarbakır Gazi Yaşargil Training and Research Hospital, Pediatric Neurology
        • Contact:
          • Seren Aydın
      • Elazığ, Turkey
        • Recruiting
        • Elazığ Fethi Tekin City Hospital
        • Contact:
          • Serkan Kırık
      • Elazığ, Turkey
        • Recruiting
        • Fırat University School of Medicine, Pediatric Metabolism
        • Contact:
          • Abdurrahman Akgün
      • Gaziantep, Turkey
        • Recruiting
        • Gaziantep Cengiz Göçek Child's Hospital, Developmental Pediatrics
        • Contact:
          • Ayşen Akbaş
      • Gaziantep, Turkey
        • Recruiting
        • Gaziantep Cengiz Göçek Child's Hospital, Pediatric Metabolism
        • Contact:
          • Duhan Hopurcuoğlu
      • Gaziantep, Turkey
        • Recruiting
        • Gaziantep Cengiz Göçek Child's Hospital, Pediatric Neurology
        • Contact:
          • Esra Ülgen Temel
      • Gaziantep, Turkey
        • Recruiting
        • Gaziantep University School of Medicine, Pediatric Neurology
        • Contact:
          • Ayşe Aysima Özçelik
      • Hatay, Turkey
        • Recruiting
        • Hatay Training and Research Hospital, Pediatric Neurology
        • Contact:
          • Fatma Kaya
      • Kahramanmaraş, Turkey
        • Recruiting
        • Necip Fazıl City Hospital, Pediatric Neurology
        • Contact:
          • Nihal Yıldız
      • Kahramanmaraş, Turkey
        • Recruiting
        • Sütçü İmam University School of Medicine, Pediatric Neurology
        • Contact:
          • Cengiz Dilber
      • Malatya, Turkey
        • Recruiting
        • Malatya İnönü University School of Medicine, Developmental Pediatrics
        • Contact:
          • Derya Doğan
      • Malatya, Turkey
        • Recruiting
        • Malatya İnönü University School of Medicine, Pediatric Neurology
        • Contact:
          • Gül Yücel
      • Malatya, Turkey
        • Recruiting
        • Malatya Training and Reserach Hospital, Pediatric Neurology
        • Contact:
          • Meral Karadağ
      • Mardin, Turkey
        • Recruiting
        • Mardin Artuklu University School of Medicine, Pediartic Endocrinology
        • Contact:
          • Mehmet Nuri Özbek
      • Mardin, Turkey
        • Recruiting
        • Mardin Artuklu University School of Medicine, Pediatric Neurology
        • Contact:
          • Nezir Özgün
      • Mersin, Turkey
        • Recruiting
        • Mersin City Hospital, Pediatric Metabolism
        • Contact:
          • Ayça Aydoğan
      • Mersin, Turkey
        • Recruiting
        • Mersin City Hospital, Pediatric Neurology
        • Contact:
          • Özlem Ersoy
      • Mersin, Turkey
        • Recruiting
        • Mersin City Hospital
        • Contact:
          • Evin İlter Bahadur
      • Mersin, Turkey
        • Recruiting
        • Mersin University School of Medicine, Pediatric eurology
        • Contact:
          • Çetin Okuyaz
      • Van, Turkey
        • Recruiting
        • Van Regional Training and Research Hospital
        • Contact:
          • Nihal Aydın
      • Şanlıurfa, Turkey
        • Recruiting
        • Şanluurfa Harran University School of Medicine, Pediatric Metabolism
        • Contact:
          • Seda Güneş
      • Şanlıurfa, Turkey
        • Recruiting
        • Şanlıurfa Training and Research Hospital, Pediatric Neurology
        • Contact:
          • Celil Yılmaz

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child

Accepts Healthy Volunteers

N/A

Sampling Method

Probability 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.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Disease Frequency
Time Frame: 1 year
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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Nadir Hastalıkları Araştırma Derneği

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 6, 2023

Primary Completion (Estimated)

January 1, 2025

Study Completion (Estimated)

March 1, 2025

Study Registration Dates

First Submitted

November 7, 2023

First Submitted That Met QC Criteria

November 7, 2023

First Posted (Actual)

November 13, 2023

Study Record Updates

Last Update Posted (Actual)

November 15, 2024

Last Update Submitted That Met QC Criteria

November 13, 2024

Last Verified

November 1, 2024

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • K-AO003-ENIGMA

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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