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Gene hunt: could DNA testing shorten the wait for answers in infant epilepsy?

NCT ID NCT06701084

Knowledge-focused Sponsor: Boston Children's Hospital Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
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
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 aims to find new genetic causes of epilepsy in infants whose seizures start before 12 months of age. Researchers will analyze the DNA of 600 babies to see if a genetic diagnosis can be made and how that affects medical care and family well-being. The goal is to shorten the time to diagnosis and improve understanding of these early-life epilepsies.

What this could mean

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

Active substance
Genomic sequencing
What this could lead to
If successful, this could improve early genetic diagnosis for infant epilepsy, guiding treatment and family counseling.
What could go wrong
This is an observational study, not a treatment trial. It may not directly change outcomes, and genetic findings may not always be actionable.

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.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

About 600 people

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

Started

Sep 2021

Expected to finish

Nov 2029

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.

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.

Infant Criteria Inclusion Criteria: * Seizure onset at less than 12 months of age * Enrollment within 6 weeks of seizure-related presentation * Patient at Boston Children's Hospital Exclusion Criteria: * Simple febrile seizures * Acute provoked seizures (e.g., due to sepsis, hemorrhage, electrolyte abnormality, cerebral infarction, hypoxic ischemic encephalopathy, non-accidental injury) * Genetic or acquired cause of epilepsy already identified, including brain magnetic resonance imaging findings consistent with a specific genetic etiology (e.g., tuberous sclerosis complex) * Deceased prior to enrollment Parent Criteria Inclusion Criteria - Parent of eligible infant (see above) Exclusion Criteria \- Not the legal guardian of the eligible infant

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Conditions

The condition(s) this trial relates to.

infantile epilepsy syndrome infantile-onset epilepsy neonatal epilepsy syndrome

As listed by the trial registrant

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

Infantile epilepsy Neonatal epilepsy

How to take part

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

  1. The places running it

    1 site. 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

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States