Dravet Syndrome (DS)TEMBO-DSNCT07801404
Biomarkers of Neurodegeneration, Synaptic Plasticity and Neuroinflammation in Dravet Syndrome
An observational study of Dravet Syndrome (DS), run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 9 sites in Italy.
Trial summary
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… Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Dravet Syndrome (DS)
- How many people
- 90 participants
- Where
- 9 sitesItaly
- Study dates
- 15 Sep 2026to 15 Sep 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: 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.
Who may be able to join
- 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):
Show all 9Show fewer
- 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.
Who cannot join
- 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.
Trial locations and contacts
9 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Domenica Immacolata Battaglia contact
9 sites in 1 country
Italy9 sites
SOD Neuropsichiatria Infantile, Dipartimento Materno Infantile, Azienda Ospedaliero Universitaria delle Marche
Ancona
Carla Marini, +39 071 5961, carla.marini@ospedaliriuniti.marche.it
UOC Neurologia Pediatrica, Dipartimento di Neuroscienze, Azienda Ospedaliero-Universitaria Meyer IRCSS
Florence
Simona Balestrini, +39 05556621, simona.balestrini@meyer.it
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
Pasquale Striano, +39 010 56361, pstriano@unige.it
UOC Neuropsichiatria Infantile, Azienda Ospedaliera Universitaria Policlinico G. Martino, Università di Messina, Messina
Messina
Gabriella Di Rosa, +39 090 2212920, gabriella.dirosa@unime.it
UOC Neuropsichiatria Infantile, Dipartimento Neuroscienze Pediatriche, IRCCS Istituto Neurologico Carlo Besta
Milan
Francesca Ragona, +39 0223941, francesca.ragona@istituto-besta.it
UOC Neurologia dell'epilessia, Dipartimento di Neuroscienze, Ospedale Pediatrico Bambino Gesù IRCCS
Roma
Nicola Specchio, +39 06 68591, nicola.specchio@opbg.net
UOC Neuropsichiatria Infantile, Dipartimento Neuroscienze Umane, Sapienza Università di Roma
Rome
Francesco Pisani, +39 0649972910, francesco.pisani@uniroma1.it
UOC Pediatria, Dipartimento Scienze Ostetriche, Ginecologiche e Pediatriche, Azienda Ospedaliero-Universitaria Sant'Andrea, Università Sapienza
Rome
Alessandro Ferretti, +39 0633771, alessandro.ferretti@uniroma1.it
UOC Neuropsichiatria Infantile, Dipartimento Materno Infantile, Azienda Ospedaliera Universitaria Integrata
Verona
Francesca Darra, +39 0458127869, francesca.darra@univr.it
About this study
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.
Read more
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.
- Conditions
- Dravet Syndrome (DS)
- Medical subject headings
- Epilepsies, Myoclonic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Dravet Syndrome | Patients with SCN1A-related Dravet Syndrome defined according to ILAE 2022 criteria and with pathogenic or likely pathogenic SCN1A variants | |
| Healthy controls | 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) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identify promising biomarkers in DS at T0
The purpose is to verify whether biomarkers of neurodegeneration, synaptic plasticity and neuroinflammation are altered in DS compared with controls matched for sex and age, and whether they correlate with clinical variables at baseline (e.g. age at onset, disease duration, history of status epilepticus, mutation type, degree of intellectual disability, degree of motor and behavioral impairment).
Measured: 1 day
Verify the natural course of biomarkers over time and the correlation with factors occurring between T0 and T1
After 12 months, clinical variables and biological samples will again be collected. The objective is to verify how the processes of neurodegeneration, synaptic plasticity and neuroinflammation change with disease evolution between T0 and T1. In the analysis of factors occurring between T0 and T1, both changes in symptoms and treatment changes will be considered.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Sep 2026
- Study start15 Sep 2026 (estimated)
- Primary completion15 Mar 2028 (estimated)
- Study completion15 Sep 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Dravet Syndrome (DS)Studies of the same condition, open and under way.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 90 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Domenica Immacolata Battaglia, Principal investigator, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07801404
- Sponsor's protocol ID
- 27582
- Acronym
- TEMBO-DS
- Status last verified
- Aug 2026
- First submitted
- 28 Aug 2026
- Last updated
- 3 Sep 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biomarkers of Neurodegeneration, Synaptic Plasticity and Neuroinflammation in Dravet Syndrome
- ClinicalTrials.gov ID
- NCT07801404
- Acronym / sponsor ID
- TEMBO-DS / 27582
- Conditions
- Dravet Syndrome (DS)
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 90 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 15 Sep 2026 (estimated)
- Primary completion
- 15 Mar 2028 (estimated)
- Study completion
- 15 Sep 2028 (estimated)
- First posted
- 3 Sep 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Dravet Syndrome | – | –Patients with SCN1A-related Dravet Syndrome defined according to ILAE 2022 criteria and with pathogenic or likely pathogenic SCN1A variants |
| Healthy controls | – | –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) |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 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.
Key inclusion criteria (9 listed)
- 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.
- 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).
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identify promising biomarkers in DS at T0
Time frame: 1 day
The purpose is to verify whether biomarkers of neurodegeneration, synaptic plasticity and neuroinflammation are altered in DS compared with controls matched for sex and age, and whether they correlate with clinical variables at baseline (e.g. age at onset, disease duration, history of status epilepticus, mutation type, degree of intellectual disability, degree of motor and behavioral impairment).
Verify the natural course of biomarkers over time and the correlation with factors occurring between T0 and T1
Time frame: 12 months
After 12 months, clinical variables and biological samples will again be collected. The objective is to verify how the processes of neurodegeneration, synaptic plasticity and neuroinflammation change with disease evolution between T0 and T1. In the analysis of factors occurring between T0 and T1, both changes in symptoms and treatment changes will be considered.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Sep 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Domenica Immacolata Battaglia contact
Domenica Immacolata Battaglia principal investigator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
9 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Dravet Syndrome (DS), run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 9 sites in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 3 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Domenica Immacolata Battaglia (+39 0630156239, domenicaimmacolata.battaglia@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identify promising biomarkers in DS at T0 (time frame: 1 day). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Sep 2026.