NCT07396883Not yet recruiting
Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing
Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing - EEPILOG
Source: ClinicalTrials.gov · Last updated 9 Feb 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Not yet recruiting
- Study type
- Observational
- Enrollment
- 20 (estimated)
- First submitted
- 2 Feb 2026
- Start date
- Jun 2026
- Primary completion date
- Jun 2028
- Lead sponsor
- University Hospital, Strasbourg, France
- Diseases
- Epilepsy
- NCT number
- NCT07396883
What you commit to
- Study type: Observational
- Planned participants: 20
- From Jun 2026 to the primary completion date, Jun 2028
- 4 sites in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- Intercurrent diseases preventing the completion of protocol examinations.
Other
- 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.
Who the study is looking for
- 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.
Age in the registry: - to 18 years · Sex: All · Does not accept healthy volunteers
Sites (4)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Chu Jean Minjoz Coordinator of this site? Confirm its status | Besançon | France | Unknown status |
| American Memorial Hospital Coordinator of this site? Confirm its status | Reims | France | Unknown status |
| Hopitaux Universitaires de Strasbourg Coordinator of this site? Confirm its status | Strasbourg | France | Unknown status |
| CHU de Nancy - hôpital d'enfant Coordinator of this site? Confirm its status | Vandœuvre-lès-Nancy | France | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.