Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing (NCT07396883) | Clinical Trial Compass
Not Yet RecruitingNot Applicable
Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing
France20 participantsStarted 2026-06
Plain-language summary
This study focuses on children with Developmental and Epileptic Encephalopathy (DEE), a severe form of epilepsy that often has a genetic origin. Currently, standard diagnostic tools-known as short-read genome sequencing-fail to provide a diagnosis for over 50% of affected patients because they cannot detect certain complex DNA abnormalities.
The purpose of this study is to evaluate the effectiveness of a newer, more advanced technology called Long-read Genome Sequencing (lrWGS). Unlike traditional methods, this technology analyzes very long fragments of DNA, allowing researchers to identify genetic errors that were previously "invisible."
The study aims to answer whether Long-read Sequencing can successfully identify the genetic cause of epilepsy in patients who have already received a negative result from standard testing. By finding these missing answers, the research seeks to enable personalized medical treatments, improve genetic counseling for families, and advance our understanding of how these complex neurological conditions develop.
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:
Pediatric Participants:
* Age \< 18 years.
* Diagnosis of Developmental and Epileptic Encephalopathy (DEE) according to 2022 ILAE criteria (severe epilepsy, encephalopathic EEG, multiple drug-resistant seizures, and neurodevelopmental disorder).
* Brain MRI without markers of perinatal anoxia.
* Negative molecular diagnosis after short-read Whole Genome Sequencing (srWGS) via the French Genomic Medicine Plan 2025 (AURAGEN).
* Available banked DNA at a participating center.
Parents/Legal Guardians:
* Age ≥ 18 years.
* Able to understand study objectives and risks.
* Signed and dated informed consent.
* Affiliated with or beneficiary of a social security scheme.
Exclusion Criteria:
Pediatric Participants:
* Brain MRI findings in favor of perinatal cerebral anoxia.
* Intercurrent diseases preventing the completion of protocol examinations.
* Subject currently in an exclusion period from another study.
Parents/Legal Guardians:
* Inability to receive or understand informed information (e.g., life-threatening emergency).
* Subject under judicial protection, tutelage, or curatorship.
* Language barriers where an official interpreter is unavailable.
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
1
Number of pathogenic and likely pathogenic genetic variants identified by long-read whole genome sequencing (lrWGS)
Timeframe: At the results delivery visit (Visit 1), up to 15 months after enrollment.