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Blood markers may expose hidden brain changes in dravet syndrome

NCT ID NCT07801404

Knowledge-focused Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS Source: ClinicalTrials.gov ↗

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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 Results may not be published yet.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
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Status unknown
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First seen Sep 03, 2026 · Last updated Sep 04, 2026 · Updated 1 time

Summary

Researchers are testing whether blood samples can reveal brain damage and inflammation in people with Dravet syndrome, a severe form of epilepsy that also affects development. The study compares blood markers from 60 people with Dravet syndrome to 30 healthy controls, and follows a subgroup for a year to see if these markers change over time. The goal is to find simple, objective measures that could help track disease severity and response to future treatments.

What this could mean

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

What this could lead to
If certain blood markers track Dravet syndrome severity, doctors could use simple blood tests to monitor the disease and measure whether new treatments slow its progression.
What could go wrong
This is an observational pilot study, not a treatment trial. It may not find reliable markers, and results from a small group may not apply to all people with Dravet syndrome.

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 90 people

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

Expected to start

Sep 2026

An estimate. Start dates often move.

Expected to finish

Sep 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

Subjects with a diagnosis of Dravet Syndrome (disease onset between 1 and 20 months of life, recurrent febrile and afebrile hemiclonic seizures, as well as focal seizures evolving to bilateral tonic-clonic seizures and/or generalized tonic-clonic seizures) without age limits, and control subjects matched for sex and age, as per the inclusion criteria.

Ages

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

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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: Subjects with Dravet Syndrome (DS): * Subjects carrying SCN1A gene variants classified as pathogenic or likely pathogenic (classes IV and V), in association with the clinical criteria defined by the ILAE (Zuberi, 2022), including: disease onset between 1 and 20 months of life, recurrent febrile and afebrile hemiclonic seizures, as well as focal seizures evolving to bilateral tonic-clonic seizures and/or generalized tonic-clonic seizures, will be included in the study. * No age limits are planned for recruitment. In order to ensure adequate representation of the different age groups, at least one third of enrolled subjects will be younger than 10 years and at least one third older than 18 years. * Informed consent signed by the parent/guardian or by the patient themself if an adult. For adult patients with intellectual disability such as to impair the capacity to consent to participation, informed consent will be obtained from the guardian/legal representative. * Informed assent signed by the minor. Healthy controls (HC): * Subjects without neurological disorders for whom a blood sample is planned for screening or for clinical questions not conflicting with the exclusion criteria, matched for age and sex to the DS group (±2 years). * Informed consent signed by the parent/guardian or by the patient themself if an adult. * Informed assent signed by the minor. Exclusion Criteria: * Subjects with a history of epileptic spasms, early-onset epileptic encephalopathy associated with gain-of-function SCN1A variants, as well as subjects with brain MRI findings indicative of a focal cause of epilepsy. * Patients affected by systemic diseases, including autoimmune or oncological conditions, and by neurodegenerative diseases potentially able to interfere with the levels of the biomarkers under study.

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Conditions

The condition(s) this trial relates to.

Dravet syndrome Epilepsies, Myoclonic

As listed by the trial registrant

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

Dravet syndrome (DS)

How to take part

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

  1. The places running it

    9 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

  • SOD Neuropsichiatria Infantile, Dipartimento Materno Infantile, Azienda Ospedaliero Universitaria delle Marche

    Ancona, Italy

  • UOC Neurologia Pediatrica, Dipartimento di Neuroscienze, Azienda Ospedaliero-Universitaria Meyer IRCSS

    Florence, Italy

  • UOC Neurologia dell'epilessia, Dipartimento di Neuroscienze, Ospedale Pediatrico Bambino Gesù IRCCS

    Roma, Italy

  • UOC Neurologia pediatrica e Malattie Muscolari, Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili, Università degli Studi di Genova, Istituto Giannina Gaslini

    Genova, Italy

  • UOC Neuropsichiatria Infantile, Azienda Ospedaliera Universitaria Policlinico G. Martino, Università di Messina, Messina

    Messina, Italy

  • UOC Neuropsichiatria Infantile, Dipartimento Materno Infantile, Azienda Ospedaliera Universitaria Integrata

    Verona, Italy

  • UOC Neuropsichiatria Infantile, Dipartimento Neuroscienze Pediatriche, IRCCS Istituto Neurologico Carlo Besta

    Milan, Italy

  • UOC Neuropsichiatria Infantile, Dipartimento Neuroscienze Umane, Sapienza Università di Roma

    Rome, Italy

  • UOC Pediatria, Dipartimento Scienze Ostetriche, Ginecologiche e Pediatriche, Azienda Ospedaliero-Universitaria Sant'Andrea, Università Sapienza

    Rome, Italy

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