UnknownNot Applicable

Clinical Phenotype and Omics Study of KCNQ2-related Epilepsy

China200 participantsStarted 2021-01-01

Plain-language 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.

Who can participate

Age range

18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Establish the phenotype database and genotype-phenotype association of KCNQ2-related Epilepsy

Timeframe: 0-18 years old

Study on the brain network of KCNQ2-related epilepsy

Timeframe: 0-18 years old

Study on the omics testing of KCNQ2-related epilepsy

Timeframe: 0-18 years old

Trial details

NCT IDNCT05157737

SponsorFudan University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2023-12-31

Contact for this trial

Yi Wang, Dr

13564766228 yiwang@shmu.edu.cn

View on ClinicalTrials.gov More KCNQ2-related Epilepsy trials

Plain-language summary

Who can participate

Age range

18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.