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

Sponsor

Nadir Hastalıkları Araştırma Derneği (Other)

Overall Status

Recruiting

CT.gov ID

NCT06128226

Collaborator

(none)

750

Enrollment

Locations

14.9

Anticipated Duration (Months)

22.1

Patients Per Site

1.5

Patients Per Site Per Month

Study Details

Study Description

Brief 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.

Condition or Disease	Intervention/Treatment	Phase
Neuronal Ceroid Lipofuxinosis Type2 (CLN2)	Genetic: Blood Sampling

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 Design

Study Type:

Observational

Anticipated Enrollment :

750 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

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

Actual Study Start Date :

Sep 6, 2023

Anticipated Primary Completion Date :

Sep 1, 2024

Anticipated Study Completion Date :

Dec 1, 2024

Outcome Measures

Primary Outcome Measures

Disease Frequency [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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

2 Years to 6 Years

Sexes Eligible for Study:

All

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

Contacts and Locations

Locations

	Site	City	Country
1	Adana City Hospital, Pediatric Metabolism	Adana	Turkey
2	Adana City Hospital, Pediatric Neurology	Adana	Turkey
3	Adana Medical Park Hospital, Pediatric Neurology	Adana	Turkey
4	Adana Şehir Hastanesi, Developmental Pediatrics	Adana	Turkey
5	Başkent University School of Medicine, petiatric Metabolism	Adana	Turkey
6	Seyhan State Hospital, Pediatric Neurology	Adana	Turkey
7	Çukurova University School of Medicine, Pediatric Metabolism	Adana	Turkey
8	Çukurova University School of Medicine, Pediatric Neurology	Adana	Turkey
9	Batman Medical Point Hospital, Pediatric Neurology	Batman	Turkey
10	Batman Training and Research Hospital, Pediatric Neurology	Batman	Turkey
11	Dicle University School of Medicine, Pediatric Neurology	Diyarbakır	Turkey
12	Diyarbakır Gazi Yaşargil Training and Research Hospital, Developmental Pediatrics	Diyarbakır	Turkey
13	Diyarbakır Gazi Yaşargil Training and Research Hospital, Pediatric Neurology	Diyarbakır	Turkey
14	Elazığ Fethi Tekin City Hospital	Elazığ	Turkey
15	Fırat University School of Medicine, Pediatric Metabolism	Elazığ	Turkey
16	Gaziantep Cengiz Göçek Child's Hospital, Developmental Pediatrics	Gaziantep	Turkey
17	Gaziantep Cengiz Göçek Child's Hospital, Pediatric Metabolism	Gaziantep	Turkey
18	Gaziantep Cengiz Göçek Child's Hospital, Pediatric Neurology	Gaziantep	Turkey
19	Gaziantep University School of Medicine, Pediatric Neurology	Gaziantep	Turkey
20	Hatay Training and Research Hospital, Pediatric Neurology	Hatay	Turkey
21	Necip Fazıl City Hospital, Pediatric Neurology	Kahramanmaraş	Turkey
22	Sütçü İmam University School of Medicine, Pediatric Neurology	Kahramanmaraş	Turkey
23	Malatya İnönü University School of Medicine, Developmental Pediatrics	Malatya	Turkey
24	Malatya İnönü University School of Medicine, Pediatric Neurology	Malatya	Turkey
25	Malatya Training and Reserach Hospital, Pediatric Neurology	Malatya	Turkey
26	Mardin Artuklu University School of Medicine, Pediartic Endocrinology	Mardin	Turkey
27	Mardin Artuklu University School of Medicine, Pediatric Neurology	Mardin	Turkey
28	Mersin City Hospital, Pediatric Metabolism	Mersin	Turkey
29	Mersin City Hospital, Pediatric Neurology	Mersin	Turkey
30	Mersin City Hospital	Mersin	Turkey
31	Mersin University School of Medicine, Pediatric eurology	Mersin	Turkey
32	Van Regional Training and Research Hospital	Van	Turkey
33	Şanluurfa Harran University School of Medicine, Pediatric Metabolism	Şanlıurfa	Turkey
34	Şanlıurfa Training and Research Hospital, Pediatric Neurology	Şanlıurfa	Turkey

Sponsors and Collaborators

Nadir Hastalıkları Araştırma Derneği

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Nadir Hastalıkları Araştırma Derneği

ClinicalTrials.gov Identifier:

NCT06128226

Other Study ID Numbers:

K-AO003-ENIGMA

First Posted:

Nov 13, 2023

Last Update Posted:

Nov 13, 2023

Last Verified:

Nov 1, 2023

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Keywords provided by Nadir Hastalıkları Araştırma Derneği

Study Results

No Results Posted as of Nov 13, 2023