KCNQ2-related EpilepsyNCT05157737
Clinical Phenotype and Omics Study of KCNQ2-related Epilepsy
An observational study of KCNQ2-related Epilepsy, run by Fudan University at 1 site in China.
Trial summary
The aims of study on KCNQ2-related epilepsy: (1) establish phenotype database and sample database of KCNQ2-related epilepsy; (2) to establish genotype-phenotype association of KCNQ2-related epilepsy; (3) to study the brain network of KCNQ2-related epilepsy based on multi-modal brain image and EEG data; (4) to find… Read more about this study
- Who is it for?
- Ages Up to 18 yearsHealthy volunteers can take part
- Conditions the study is for
- KCNQ2-related Epilepsy
- What is being tested?
- Electrophysiological detection of KCNQ2 mutation, Multi-modal brain image and EEG and Omics testing
- How many people
- 200 participants
- Where
- 1 siteChina
- Study dates
- 1 Jan 2021to 31 Dec 2024
- How long will I take part?
- 3 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Up to 18 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: The patients of KCNQ2-related epilepsy who meet the clinical and genetic diagnosis criteria.
Who may be able to join
- KCNQ2 mutation was confirmed by WES, Panel and other gene tests;
- Clinically diagnosed as epilepsy;
- KCNQ2 mutation was identified as pathogenic or possibly pathogenic according to ACMG pathogenicity rating standard;
- Age and gender are not limited;
- No abnormal birth history;
- Informed consent and willingness to follow up
Who cannot join
- Patients with KCNQ2 mutation without epilepsy;
- Other possible pathogenic gene mutations except KCNQ2;
- Large cross-gene deletions or duplications including KCNQ2;
- Unable to participate in the study follow-up
Trial locations and contacts
1 site in 1 country.
China1 site, 1 recruiting
- Recruiting
Children's Hospital of Fudan University
Shanghai, Shanghai Municipality, 200232
Yi Wang, Dr., +8613564766228, yiwang@shmu.edu.cn
About this study
The aims of study on KCNQ2-related epilepsy: (1) establish phenotype database and sample database of KCNQ2-related epilepsy; (2) to establish genotype-phenotype association of KCNQ2-related epilepsy; (3) to study the brain network of KCNQ2-related epilepsy based on multi-modal brain image and EEG data; (4) to find prognostic biomarkers of KCNQ2-related epilepsy based on omics study.
Read the detailed description
- Participant recruitment: participants are recruited from Chinese KCNQ2-related epilepsy patients group (http://www.kcnq2.cn/). According to the clinical phenotype, the participants will be divided into benign familial neonatal seizures (BFNS) group and Developmental and epileptic encephalopathy (DEE) group.
- Genotype-phenotype association: electrophysiological detection of KCNQ2 mutation will be performed using patch clamp technique in an in vitro cell model. The association between phenotype (such as epileptic phenotype, developmental assessment and drug response) and genotype will be analyzed.
- Brain network analysis: participants who provide informed consent will be scaned by brain magnetic resonance imaging (MRI) or positron emission tomography-computed tomography (PET-CT) and monitored by the electroencephalogram (EEG). The Brain Network of KCNQ2-related epilepsy will be analyzed based on multi-modal brain image and EEG between BFNS and DEE group.
- Omics Study: after informed consent, blood, urine and feces samples of participants will be taken. The samples were tested for omics study including proteomics, metabolomics, transcriptomics, to analysis the difference of BFNS and DEE group.
- Conditions
- KCNQ2-related Epilepsy
- Being tested
- Electrophysiological detection of KCNQ2 mutation, Multi-modal brain image and EEG, Omics testing
- Keywords
- KCNQ2-related epilepsy, Benign familial neonatal seizures, Developmental and epileptic encephalopathy, Genotype-phenotype association, Brain network, Omics study
- Medical subject headings
- Convulsions benign familial neonatal dominant form
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Electrophysiological detection of KCNQ2 mutationOther
Electrophysiological detection of KCNQ2 mutation performed using patch clamp technique in an in vitro cell model. Analyze the association between phenotype and genotype.
Multi-modal brain image and EEGOther
Multi-modal brain image include brain magnetic resonance imaging (MRI) or positron emission tomography-computed tomography (PET-CT). The electroencephalogram (EEG) incuding video electroencephalogram (VEEG) and sleep electroencephalogram (SEEG).
Omics testingOther
Omics testing include proteomics, metabolomics, transcriptomics.
| Study group | Role | What they receive |
|---|---|---|
| BFNS group | (1) Epileptic seizure in neonatal period; (2) Epileptic seizure duration is short, which under spontaneous control in 4~6 months; (3) The patient was in normal state of feeding, physical examination and psychomotor development; (4) There were no signs of hypsarrhythmia or burst suppression in EEG. Receives: Other: Electrophysiological detection of KCNQ2 mutation; Other: Multi-modal brain image and EEG; Other: Omics testing | |
| DEE group | (1) Epileptic seizures occur within a week after birth and recur frequently; (2) Epilepsy is refractory; (3) Feeding difficulties, accompanied by moderate to severe mental retardation and psychomotor retardation; (4) The EEG showed hypsarrhythmia or burst suppression. Receives: Other: Electrophysiological detection of KCNQ2 mutation; Other: Multi-modal brain image and EEG; Other: Omics testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Establish the phenotype database and genotype-phenotype association of KCNQ2-related Epilepsy
Analysis of Clinical information of KCNQ2-related Epilepsy such as phenotype, genotype, brain image ,EEG, living quality and comorbidity.
Measured: 0-18 years old
Study on the brain network of KCNQ2-related epilepsy
Analysis of brain network of KCNQ2-related epilepsy based on multi-modal brain image and EEG
Measured: 0-18 years old
Study on the omics testing of KCNQ2-related epilepsy
Analysis of prognostic biomarker of KCNQ2-related epilepsy based on proteomics, metabolomics, transcriptomics.
Measured: 0-18 years old
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Dec 2021
- Study start1 Jan 2021
- Primary completion31 Dec 2023 (estimated)
- Study completion31 Dec 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for KCNQ2-related EpilepsyStudies of the same condition, open and under way.
- More trials run by Fudan UniversityThe sponsor's other registered studies.
- 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
- 200 participants (estimated)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- Fudan University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Yi Wang, Fudan University
- Investigators
- Yi Wang, Dr, Principal investigator, Children's Hospital of Fudan University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05157737
- Sponsor's protocol ID
- 2020-520
- Status last verified
- Dec 2021
- First submitted
- 1 Dec 2021
- Last updated
- 15 Dec 2021
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Dec 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Phenotype and Omics Study of KCNQ2-related Epilepsy
- ClinicalTrials.gov ID
- NCT05157737
- Acronym / sponsor ID
- 2020-520
- Conditions
- KCNQ2-related Epilepsy
- Keywords
- KCNQ2-related epilepsy, Benign familial neonatal seizures, Developmental and epileptic encephalopathy, Genotype-phenotype association, Brain network, Omics study
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Fudan UniversityUniversity, hospital or other
- Study start
- 1 Jan 2021 (actual)
- Primary completion
- 31 Dec 2023 (estimated)
- Study completion
- 31 Dec 2024 (estimated)
- First posted
- 15 Dec 2021 (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.
The aims of study on KCNQ2-related epilepsy: (1) establish phenotype database and sample database of KCNQ2-related epilepsy; (2) to establish genotype-phenotype association of KCNQ2-related epilepsy; (3) to study the brain network of KCNQ2-related epilepsy based on multi-modal brain image and EEG data; (4) to find prognostic biomarkers of KCNQ2-related epilepsy based on omics study.
Detailed description
- Participant recruitment: participants are recruited from Chinese KCNQ2-related epilepsy patients group (http://www.kcnq2.cn/). According to the clinical phenotype, the participants will be divided into benign familial neonatal seizures (BFNS) group and Developmental and epileptic encephalopathy (DEE) group.
- Genotype-phenotype association: electrophysiological detection of KCNQ2 mutation will be performed using patch clamp technique in an in vitro cell model. The association between phenotype (such as epileptic phenotype, developmental assessment and drug response) and genotype will be analyzed.
- Brain network analysis: participants who provide informed consent will be scaned by brain magnetic resonance imaging (MRI) or positron emission tomography-computed tomography (PET-CT) and monitored by the electroencephalogram (EEG). The Brain Network of KCNQ2-related epilepsy will be analyzed based on multi-modal brain image and EEG between BFNS and DEE group.
- Omics Study: after informed consent, blood, urine and feces samples of participants will be taken. The samples were tested for omics study including proteomics, metabolomics, transcriptomics, to analysis the difference of BFNS and DEE group.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 3 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| BFNS group | – | Other: Electrophysiological detection of KCNQ2 mutation, Other: Multi-modal brain image and EEG, Other: Omics testing(1) Epileptic seizure in neonatal period; (2) Epileptic seizure duration is short, which under spontaneous control in 4~6 months; (3) The patient was in normal state of feeding, physical examination and psychomotor development; (4) There were no signs of hypsarrhythmia or burst suppression in EEG. |
| DEE group | – | Other: Electrophysiological detection of KCNQ2 mutation, Other: Multi-modal brain image and EEG, Other: Omics testing(1) Epileptic seizures occur within a week after birth and recur frequently; (2) Epilepsy is refractory; (3) Feeding difficulties, accompanied by moderate to severe mental retardation and psychomotor retardation; (4) The EEG showed hypsarrhythmia or burst suppression. |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- The patients of KCNQ2-related epilepsy who meet the clinical and genetic diagnosis criteria.
Key inclusion criteria (6 listed)
- KCNQ2 mutation was confirmed by WES, Panel and other gene tests;
- Clinically diagnosed as epilepsy;
- KCNQ2 mutation was identified as pathogenic or possibly pathogenic according to ACMG pathogenicity rating standard;
- Age and gender are not limited;
- No abnormal birth history;
Key exclusion criteria (4 listed)
- Patients with KCNQ2 mutation without epilepsy;
- Other possible pathogenic gene mutations except KCNQ2;
- Large cross-gene deletions or duplications including KCNQ2;
- Unable to participate in the study follow-up
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 |
|---|---|---|
| Electrophysiological detection of KCNQ2 mutationElectrophysiological detection of KCNQ2 mutation performed using patch clamp technique in an in vitro cell model. Analyze the association between phenotype and genotype. | Other | BFNS group, DEE group |
| Multi-modal brain image and EEGMulti-modal brain image include brain magnetic resonance imaging (MRI) or positron emission tomography-computed tomography (PET-CT). The electroencephalogram (EEG) incuding video electroencephalogram (VEEG) and sleep electroencephalogram (SEEG). | Other | BFNS group, DEE group |
| Omics testingOmics testing include proteomics, metabolomics, transcriptomics. | Other | BFNS group, DEE group |
Primary outcome
Establish the phenotype database and genotype-phenotype association of KCNQ2-related Epilepsy
Time frame: 0-18 years old
Analysis of Clinical information of KCNQ2-related Epilepsy such as phenotype, genotype, brain image ,EEG, living quality and comorbidity.
Study on the brain network of KCNQ2-related epilepsy
Time frame: 0-18 years old
Analysis of brain network of KCNQ2-related epilepsy based on multi-modal brain image and EEG
Study on the omics testing of KCNQ2-related epilepsy
Time frame: 0-18 years old
Analysis of prognostic biomarker of KCNQ2-related epilepsy based on proteomics, metabolomics, transcriptomics.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Dec 2021.
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. This study is not recruiting at the moment.
Yi Wang, Dr principal investigator
Children's Hospital of Fudan University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of KCNQ2-related Epilepsy, run by Fudan University at 1 site in China.
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 6 inclusion and 4 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: status not confirmed, as of the sponsor's last update on 15 Dec 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Yi Wang, Dr (13564766228, yiwang@shmu.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Establish the phenotype database and genotype-phenotype association of KCNQ2-related Epilepsy (time frame: 0-18 years old). The study lists 3 primary outcomes in all. 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 Dec 2021.