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New gene test could unlock mysteries of severe epilepsy in kids

NCT ID NCT03652246

Diagnosis Sponsor: Centre Hospitalier Universitaire Dijon 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
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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 tested whether a powerful genetic test called exome sequencing can find the cause of severe epilepsy in children when standard tests fail. Researchers studied 15 children with epileptic encephalopathy of unknown genetic origin. The goal was to see if this test could improve diagnosis and help families get better genetic counseling.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
high-throughput exome sequencing
What this could lead to
If successful, this approach could become a routine diagnostic tool, helping more families get a clear genetic diagnosis and better counseling.
What could go wrong
This is a very small pilot study with only 15 participants, so results may not apply broadly. The technique may not find a cause in all cases.

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

15 people

The number who actually took part.

Started

Sep 2013

Finished

Dec 2014

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

Patient in consultation

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

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: * Diagnosis of epileptic encephalopathy, defined by the clinical association of epilepsy and a significant delay in acquisition * Family case with recurrence in siblings, suggesting autosomal recessive transmission or X-linked inheritance (with or without parental consanguinity), or sporadic case resulting from inbreeding. * Lack of etiologic orientation based on clinical examination. * Normal routine diagnostic genetic examinations including a metabolic check-up, array CGH analysis. * Brain imaging which does not suggest an acquired cause. Exclusion Criteria: * Unavailable parental samples * Diagnostic orientation from one of the tests mentioned above * Brain imaging suggesting anoxia sequelae

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Conditions

The condition(s) this trial relates to.

developmental and epileptic encephalopathy undetermined early-onset epileptic encephalopathy

As listed by the trial registrant

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

Epileptic encephalopathy of unindentified genetic origin

Contacts and locations

Locations

  • Chu Dijon Bourogne

    Dijon, 21000, France

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