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Clinical Phenotype and Omics Study of KCNQ2-related Epilepsy

NCT ID: NCT05157737

Last Updated: 2021-12-15

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-01-01

Study Completion Date

2024-12-31

Brief Summary

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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

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1. 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.
2. 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.
3. 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.
4. 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

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KCNQ2-related Epilepsy

Keywords

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KCNQ2-related epilepsy Benign familial neonatal seizures Developmental and epileptic encephalopathy Genotype-phenotype association Brain network Omics study

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

Electrophysiological detection of KCNQ2 mutation

Intervention Type OTHER

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 EEG

Intervention Type OTHER

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 testing

Intervention Type OTHER

Omics testing include proteomics, metabolomics, transcriptomics.

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.

Electrophysiological detection of KCNQ2 mutation

Intervention Type OTHER

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 EEG

Intervention Type OTHER

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 testing

Intervention Type OTHER

Omics testing include proteomics, metabolomics, transcriptomics.

Interventions

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Electrophysiological detection of KCNQ2 mutation

Electrophysiological detection of KCNQ2 mutation performed using patch clamp technique in an in vitro cell model. Analyze the association between phenotype and genotype.

Intervention Type OTHER

Multi-modal brain image and EEG

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).

Intervention Type OTHER

Omics testing

Omics testing include proteomics, metabolomics, transcriptomics.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* 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

Exclusion Criteria

* 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
Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Fudan University

OTHER

Sponsor Role lead

Responsible Party

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Yi Wang

Professer

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Yi Wang, Dr

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital of Fudan University

Locations

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Children's Hospital of Fudan University

Shanghai, Shanghai Municipality, China

Site Status RECRUITING

Countries

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China

Central Contacts

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Yi Wang, Dr

Role: CONTACT

Phone: 13564766228

Email: [email protected]

Facility Contacts

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Yi Wang, Dr.

Role: primary

Other Identifiers

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2020-520

Identifier Type: -

Identifier Source: org_study_id