Ignite Creation Date:
2024-05-06 @ 4:59 PM
Last Modification Date:
2024-10-26 @ 2:20 PM
Study NCT ID:
NCT05157737
Status:
RECRUITING
Last Update Posted:
2021-12-15
First Post:
2021-12-01
Brief Title:
Clinical Phenotype and Omics Study of KCNQ2-related Epilepsy
Sponsor:
Fudan University
Organization:
Fudan University
Study Overview
Official Title:
Clinical Phenotype and Omics Study of KCNQ2-related Epilepsy
Status:
RECRUITING
Status Verified Date:
2021-12
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 prognostic biomarkers of KCNQ2-related epilepsy based on omics study
Detailed Description:
1 Participant recruitment participants are recruited from Chinese KCNQ2-related epilepsy patients group httpwwwkcnq2cn 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
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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None