Developmental and Epileptic EncephalopathyEpilepsy in Children
Investigational drug(s) / intervention(s)
Long-read Whole Genome Sequencing (lrWGS)
Long-read Whole Genome Sequencing (lrWGS): Long-read Whole Genome Sequencing (lrWGS) using high-molecular-weight DNA previously extracted and banked during the patient's initial clinical workup.
Study 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.
Eligibility
Sex
ALL
Min age
—
Max age
18 Years
Healthy volunteers
No
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.
Primary outcome measure(s)
Number of pathogenic and likely pathogenic genetic variants identified by long-read whole genome sequencing (lrWGS) — At the results delivery visit (Visit 1), up to 15 months after enrollment. Evaluate the efficacy of long-read whole genome sequencing (lrWGS) in identifying genetic causes in patients with developmental and epileptic encephalopathy who did not obtain a molecular diagnosis despite previous short-read whole genome sequencing (srWGS) analysis within the framework of the French Genomic Medicine Plan 2025 (PFMG 2025).
Trial sites (4)
Facility
City
Region
Status
CHU Jean Minjoz
Besançon
France
American Memorial Hospital
Reims
France
Hôpitaux Universitaires de Strasbourg
Strasbourg
France
CHU de Nancy - hôpital d'enfant
Vandœuvre-lès-Nancy
France
More University Hospital, Strasbourg, France trials in France
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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