Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeUp to 18
SponsorUniversity Hospital, Strasbourg, France
About this trial
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 criteria
This trial does not accept healthy volunteersQualifiers
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).
Disqualifiers
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.
Inability to receive or understand informed information (e.g., life-threatening emergency).
Trial population
The study population is drawn from specialized pediatric neurology and genetics departments within the French university hospital network (CHU). Participants are specifically sourced from the existing patient base of the AURAGEN platform, one of the two national sequencing hubs established under the French Genomic Medicine Plan 2025 (PFMG 2025). These individuals represent a highly selected sub-population of children across France who have already undergone extensive clinical phenotyping and "first-line" genomic screening but remain without a molecular diagnosis. The recruitment occurs primarily at the Strasbourg University Hospital (Hôpitaux Universitaires de Strasbourg) and collaborating clinical sites. These centers serve as regional and national referral points for rare and refractory childhood epilepsies, ensuring that the study population includes the most complex and diagnostically challenging cases of Developmental and Epileptic Encephalopathy (DEE) in the country.
Trial design
Design model
Case-only
Time perspective
Prospective
Treatments tested in this trial
Long-read Whole Genome Sequencing (lrWGS)
Diagnostic testLong-read Whole Genome Sequencing (lrWGS) using high-molecular-weight DNA previously extracted and banked during the patient's initial clinical workup.
Treatment groups
20 Participants
are divided into 1 treatment groupGroup A: DEE Long-read1 intervention
Trial outcomes
Primary outcomes
1
Number of pathogenic and likely pathogenic genetic variants identified by long-read whole genome sequencing (lrWGS)
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).
Time frame
At the results delivery visit (Visit 1), up to 15 months after enrollment.Sponsors and contacts
Click on the lead sponsor to view all of their trials.
University Hospital, Strasbourg, France
Lead sponsor
IGBMC
Collaborator
Laboratoire de diagnostic génétique - NHC
Collaborator
Groupe Méthode en Recherche Clinique (GMRC)
Collaborator
Bio-informatique médicale appliquée au diagnostic (UF7363) - NHC
Collaborator
Source ClinicalTrials.gov
This trial is not recruiting at the moment. You can still explore other options: