Neuronal Ceroid Lipofuxinosis Type2 (CLN2)ENIGMANCT06128226
A Multicenter Selective Screening Study to Investigate the Frequency of Neuronal Ceroid Lipofuxinosis Type 2 (CLN2)
An observational study of Neuronal Ceroid Lipofuxinosis Type2 (CLN2), run by Nadir Hastalıkları Araştırma Derneği at 34 sites in Turkey (Türkiye).
Trial 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… Read more about this study
- Who is it for?
- Ages 2 to 6 years
- Conditions the study is for
- Neuronal Ceroid Lipofuxinosis Type2 (CLN2)
- What is being tested?
- Blood Sampling
- How many people
- 750 participants
- Where
- 34 sitesTurkey (Türkiye)
- Study dates
- 6 Sep 2023to Mar 2025
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 6 years
- All sexes
- Child
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.
Who may be able to join
- 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,
Show all 10Show fewer
- 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.
Who cannot join
- 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
Trial locations and contacts
34 sites in 1 country. Contact the study team or a site near you to ask about taking part.
34 sites in 1 country
Turkey (Türkiye)34 sites, 34 recruiting
- Recruiting
Adana City Hospital, Pediatric Metabolism
Adana
Merve Yoldaş Çelik
- Recruiting
Adana City Hospital, Pediatric Neurology
Adana
Habibe Koç Uçar
- Recruiting
Adana Medical Park Hospital, Pediatric Neurology
Adana
Leman Tekin Ongun
- Recruiting
Adana Şehir Hastanesi, Developmental Pediatrics
Adana
Halise Metin Baz
- Recruiting
Başkent University School of Medicine, petiatric Metabolism
Adana
İlknur Erol
- Recruiting
Seyhan State Hospital, Pediatric Neurology
Adana
Neslihan Özcan
- Recruiting
Çukurova University School of Medicine, Pediatric Metabolism
Adana
Neslihan Önenli Mungan
- Recruiting
Çukurova University School of Medicine, Pediatric Neurology
Adana
Mihriban Özlem Hergüner
- Recruiting
Batman Medical Point Hospital, Pediatric Neurology
Batman
Cahide Aslan
- Recruiting
Batman Training and Research Hospital, Pediatric Neurology
Batman
Burçin Gönüllü Polat
- Recruiting
Dicle University School of Medicine, Pediatric Neurology
Diyarbakır
Rojan İpek
- Recruiting
Diyarbakır Gazi Yaşargil Training and Research Hospital, Developmental Pediatrics
Diyarbakır
Şenay Güven Baysal
- Recruiting
Diyarbakır Gazi Yaşargil Training and Research Hospital, Pediatric Neurology
Diyarbakır
Seren Aydın
- Recruiting
Elazığ Fethi Tekin City Hospital
Elâzığ
Serkan Kırık
- Recruiting
Fırat University School of Medicine, Pediatric Metabolism
Elâzığ
Abdurrahman Akgün
- Recruiting
Gaziantep Cengiz Göçek Child's Hospital, Developmental Pediatrics
Gaziantep
Ayşen Akbaş
- Recruiting
Gaziantep Cengiz Göçek Child's Hospital, Pediatric Metabolism
Gaziantep
Duhan Hopurcuoğlu
- Recruiting
Gaziantep Cengiz Göçek Child's Hospital, Pediatric Neurology
Gaziantep
Esra Ülgen Temel
- Recruiting
Gaziantep University School of Medicine, Pediatric Neurology
Gaziantep
Ayşe Aysima Özçelik
- Recruiting
Hatay Training and Research Hospital, Pediatric Neurology
Hatay
Fatma Kaya
- Recruiting
Necip Fazıl City Hospital, Pediatric Neurology
Kahramanmaraş
Nihal Yıldız
- Recruiting
Sütçü İmam University School of Medicine, Pediatric Neurology
Kahramanmaraş
Cengiz Dilber
- Recruiting
Malatya İnönü University School of Medicine, Developmental Pediatrics
Malatya
Derya Doğan
- Recruiting
Malatya İnönü University School of Medicine, Pediatric Neurology
Malatya
Gül Yücel
- Recruiting
Malatya Training and Reserach Hospital, Pediatric Neurology
Malatya
Meral Karadağ
- Recruiting
Mardin Artuklu University School of Medicine, Pediartic Endocrinology
Mardin
Mehmet Nuri Özbek
- Recruiting
Mardin Artuklu University School of Medicine, Pediatric Neurology
Mardin
Nezir Özgün
- Recruiting
Mersin City Hospital, Pediatric Metabolism
Mersin
Ayça Aydoğan
- Recruiting
Mersin City Hospital, Pediatric Neurology
Mersin
Özlem Ersoy
- Recruiting
Mersin City Hospital
Mersin
Evin İlter Bahadur
- Recruiting
Mersin University School of Medicine, Pediatric eurology
Mersin
Çetin Okuyaz
- Recruiting
Şanluurfa Harran University School of Medicine, Pediatric Metabolism
Sanliurfa
Seda Güneş
- Recruiting
Şanlıurfa Training and Research Hospital, Pediatric Neurology
Sanliurfa
Celil Yılmaz
- Recruiting
Van Regional Training and Research Hospital
Van
Nihal Aydın
About this study
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
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.
Read the 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.
- Being tested
- Blood Sampling
- Keywords
- Neuronal, Genetics, Metabolism, Rare
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Nov 2023
- Study start6 Sep 2023
- Primary completionJan 2025 (estimated)
- Study completionMar 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neuronal Ceroid Lipofuxinosis Type2 (CLN2)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 750 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Nadir Hastalıkları Araştırma Derneği
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06128226
- Sponsor's protocol ID
- K-AO003-ENIGMA
- Acronym
- ENIGMA
- Status last verified
- Nov 2024
- First submitted
- 7 Nov 2023
- Last updated
- 15 Nov 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Nov 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT06128226
- Acronym / sponsor ID
- ENIGMA / K-AO003-ENIGMA
- Keywords
- Neuronal, Genetics, Metabolism, Rare
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 750 participants (estimated)
- Lead sponsor
- Nadir Hastalıkları Araştırma DerneğiUniversity, hospital or other
- Study start
- 6 Sep 2023 (actual)
- Primary completion
- Jan 2025 (estimated)
- Study completion
- Mar 2025 (estimated)
- First posted
- 13 Nov 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 2 to 6 years
- Sex
- All
- Age groups
- Child
- 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.
Key inclusion criteria (10 listed)
- Girls and boys aged 6 years old
- Having a history of at least one seizure
- With a history of idiopathic seizures;
- Without hypoxic ischemic encephalopathy, head trauma and developmental brain anomalies
- Not having been previously diagnosed with CLN2
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood SamplingFor 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. | Genetic | – |
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Nov 2024.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
34 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neuronal Ceroid Lipofuxinosis Type2 (CLN2), run by Nadir Hastalıkları Araştırma Derneği at 34 sites in Turkey (Türkiye).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 15 Nov 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 34 sites in Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Güneş Oymak (0090 533 229 97 21, goymak@gnscorporate.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Disease Frequency (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Nov 2024; AzTrials last refreshed its copy on 29 Oct 2026.