Testing a new long-read genome sequencing method in children with severe epilepsy
Checks whether a new DNA test finds causes of severe childhood epilepsy missed before.
Plain-language title generated from the registry record
Registry title: Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing
Key facts
- Where
- Besançon, Reims, Strasbourg, and Vandœuvre-lès-Nancy, FranceSee the 4 sites
Where in France
- Chu Jean MinjozBesançon, FranceNo longer taking part
- American Memorial HospitalReims, FranceNo longer taking part
- Hopitaux Universitaires de StrasbourgStrasbourg, FranceNo longer taking part
- CHU de Nancy - hôpital d'enfantVandœuvre-lès-Nancy, FranceNo longer taking part
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- University Hospital, Strasbourg, France
- Trial code
- NCT07396883
- Record updated
- 9 February 2026
- Original description
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.Read full original descriptionShow less
Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing - EEPILOG
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.
Inclusion: 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: Intercurrent diseases preventing the completion of protocol examinations; Pediatric Participants:; Brain MRI findings in favor of perinatal cerebral anoxia; 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.