ClinicalTrials.gov record NCT07801404

Biomarkers of Neurodegeneration, Synaptic Plasticity and Neuroinflammation in Dravet Syndrome

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 5, 2026

Biomarkers of Neurodegeneration, Synaptic Plasticity and Neuroinflammation in Dravet Syndrome

StatusNot yet recruitingThe study has been registered but has not started enrolling. Sites and contacts may not be listed yet.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Healthy volunteersAcceptedPeople who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.
SexAll
LocationItaly
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a prospective observational pilot study enrolling about 60 people with Dravet Syndrome and 30 age- and sex-matched healthy controls. At baseline the study collects clinical information and blood samples (taken during routine clinical sampling) to measure markers such as NfL, GFAP, tau-related markers, and BDNF. A subgroup of participants will have clinical assessment and repeat blood sampling after roughly 12 months to study change over time.

What it is studying. The study tests whether blood levels of markers of neurodegeneration, synaptic plasticity, and neuroinflammation differ between people with DS and matched controls, and whether those levels relate to clinical measures and change over about 12 months. It pays particular attention to neurofilament light (NfL) and its relationship with adaptive functioning.

What the researchers hope to learn. To identify one or more blood-based biomarkers, or combinations of biomarkers, associated with Dravet Syndrome, disease severity, and clinical evolution. To assess how biomarker levels change over time and how they relate to clinical measures (including adaptive functioning). To provide objective measures that could be used in future natural-history studies and therapeutic trials, including assessment of non-seizure outcomes.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

Dravet syndrome (DS) is a developmental and epileptic encephalopathy, usually caused by de novo pathogenic SCN1A variants, characterized by early-onset prolonged febrile seizures, subsequent drug-resistant polymorphic epilepsy, developmental impairment, and, in some patients, progressive motor, cognitive and behavioral decline. Despite the expanding therapeutic landscape, objective biomarkers for disease stratification, monitoring and treatment response are lacking. Blood-based markers of neurodegeneration, synaptic plasticity and neuroinflammation are promising candidates because they are minimally invasive and may capture biological processes involved in disease progression. TEMBO-DS is a prospective multicenter observational pilot study enrolling 60 individuals with DS and 30 age- and sex-matched healthy controls. DS participants will carry pathogenic or likely pathogenic SCN1A variants and fulfill ILAE clinical criteria, with no age limits. Individuals with epileptic spasms, SCN1A gain-of-function encephalopathy, structural causes of epilepsy, or systemic, oncological, autoimmune or neurodegenerative conditions potentially affecting biomarker levels will be excluded. At baseline, demographic and clinical variables will be collected, including age at seizure onset, seizure type and frequency, status epilepticus, SCN1A variant type, cognitive, motor, behavioral and sleep profiles, comorbidities and ongoing treatments. Blood samples obtained during routine clinical sampling will be analyzed for biomarkers of neurodegeneration and glial injury (NfL, GFAP, tau-related markers), synaptic plasticity (BDNF) and neuroinflammation. In a subgroup of DS participants, clinical assessment and blood sampling will be repeated after approximately 12 months. The study will assess whether biomarker levels differ between DS and controls and whether they correlate with clinically relevant measures of disease severity and longitudinal change. Particular emphasis will be placed on the relationship between NfL and Vineland adaptive functioning, including their changes over 12 months and the effect of treatment modifications. Group comparisons, correlation analyses and longitudinal mixed-effects models will be used, with adjustment for relevant covariates and multiple testing. The study is expected to identify one or more blood-based biomarkers, or biomarker combinations, associated with DS, disease severity and clinical evolution. These findings may provide objective measures for future natural-history studies and therapeutic trials, including the assessment of non-seizure outcomes.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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.
  • 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.

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

At a baseline visit researchers will collect medical and seizure history and perform clinical assessments of cognition, motor skills, behavior, and sleep. Blood samples taken during routine clinical blood draws will be analyzed for biomarkers of neurodegeneration, synaptic plasticity, and neuroinflammation (for example NfL, GFAP, tau-related markers, and BDNF). A subgroup of participants with Dravet syndrome will be asked to repeat clinical assessment and blood sampling about 12 months later to assess change over time. The registry record does not list invasive procedures such as lumbar puncture or biopsies.

How the study is structured. A prospective, multicenter case-control observational pilot study. About 60 participants with SCN1A-related Dravet Syndrome and 30 age- and sex-matched healthy controls will be enrolled. At baseline investigators will collect clinical information and blood samples taken during routine care; a subgroup of DS participants will repeat assessments and blood sampling at about 12 months. Analyses will compare groups, examine correlations with clinical features, and model longitudinal changes.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The registry says recruitment has not started. When is it expected to open, and can I register interest now?
  • The listed sites are in Italy. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Dravet syndrome

This trial is also listed on this site under CDKL5 deficiency disorder.

Clinical trials22 trials listed for Dravet syndromeEvery trial the registry lists for Dravet syndrome, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Dravet syndrome researchLatest monthly update: September 2026. Includes: CBD in practice. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Sep 15, 2026 (estimated)
Primary completion
Mar 15, 2028 (estimated)
Study completion
Sep 15, 2028 (estimated)
Target enrollment
90 participants (estimated)
Last updated on registry
Sep 3, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (9)

Terms used on this page · explanations by MedicalUpdates.ai

biomarkers
Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
baseline
Measurements taken at the start of the study, before any study treatment, so that later results can be compared with them.
Informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
legal representative
A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
assent
A child's or dependent adult's agreement to take part, given alongside the formal consent of a parent or legal representative.
MRI
A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
exclusion criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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