Den här översättningen är inte klar ännu. Den här sidan är just nu på engelska.

Gå till den engelska sidan

Cure My Disease

Don't miss your cure!

 Log in / Sign up

New DNA reader aims to solve mystery of childhood epilepsy cases

NCT ID NCT07396883

Knowledge-focused Sponsor: University Hospital, Strasbourg, France Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting This study
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study tests a new DNA technology called long-read genome sequencing in 20 children with severe epilepsy whose standard genetic tests came back normal. The goal is to find hidden genetic causes that standard tests miss, which could lead to better treatments and genetic counseling. The study does not offer a cure or treatment, but aims to improve diagnosis and understanding of the disease.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 20 people

The number the study aims to enrol. It can still change while the study runs.

Expected to start

Jun 2026

An estimate. Start dates often move.

Expected to finish

Jun 2028

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

Up to 18 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for Developmental and epileptic encephalopathy are added.

Vår säkerhetsrekommendation!

Genom att skicka in godkänner du våra Användarvillkor

Conditions

The condition(s) this trial relates to.

childhood-onset epilepsy syndrome developmental and epileptic encephalopathy Drug Resistant Epilepsy epilepsy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Developmental and epileptic encephalopathy Epilepsy in children

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    4 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • American Memorial Hospital

    Reims, 51092, France

  • CHU Jean Minjoz

    Besançon, 25000, France

  • CHU de Nancy - hôpital d'enfant

    Vandœuvre-lès-Nancy, 54511, France

  • Hôpitaux Universitaires de Strasbourg

    Strasbourg, 67098, France

More trials for these conditions

Other studies related to the condition(s) this trial covers.