An observational study in Dravet Syndrome (DS), sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS. Not yet recruiting at 9 sites in Italy. Per ClinicalTrials.gov, last updated 2026-09-03.
Sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Observational
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Among 17 studies in Epilepsies, Myoclonic with a site in Italy — 3 open to participants now, 7 under way, 3 of them phase 3. Epilepsies, Myoclonic · Italy.
Among the 17 studies in Epilepsies, Myoclonic with a site in Italy, this one is the only one that started in 2026, is one of 5 observational ones, and was the 17th registered.
92 studies on the registry are indexed under Epilepsies, Myoclonic; 21 are open to participants now.
Browse Epilepsies, Myoclonic studies →3 of the 17 studies in Epilepsies, Myoclonic with a site in Italy are open now. Recruiting first, the newest first:
Longboard Pharmaceuticals · Sites in Italy, United States, Australia and 14 more countries
Ages 2–66
Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Sites in Italy
Ages 18–35 · Healthy volunteers
A study can be open while its sites in Italy have not opened yet or have stopped. Only those recruiting at a site in Italy →
Of the 14 Epilepsies, Myoclonic studies recruiting now, 3 (21%) set no upper age limit and 10 (71%) stop at 75 or younger; 11 take children under 18; 3 take healthy volunteers.
This study: all sexes · healthy volunteers too.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
17 studies; the count open now beside each. This study's row is marked.
First in 2016; this study’s year is marked. 1 started in 2026.
By drug class, each counting the studies that test any of its medicines:
This study's planned enrollment of 90 is above the median of 75 across 22 observational studies indexed under Epilepsies, Myoclonic.
Median enrollment 157 across the 12 interventional studies, 90 across the 5 observational. Of the 10 that completed or were terminated, 7 (70%) have results posted.
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13 of 17 have an industry lead sponsor. The 10 most frequent:
Fondazione Policlinico Universitario Agostino Gemelli IRCCS is the lead sponsor of 952 studies on the registry; 541 are open to participants now.
Fondazione Policlinico Universitario Agostino Gemelli IRCCS has 3 studies filed under Epilepsies, Myoclonic — fewer than ten, so there is no comparison to draw.
5 of the studies in Epilepsies, Myoclonic with a site in Italy that are under way reach primary completion within a year, 3 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT06660394Phase 3Longboard PharmaceuticalsA Phase 3, Placebo-Controlled Study to Investigate LP352 in Children and Adults With Dravet Syndrome (DS) | 2026-12-31 |
| NCT06872125Phase 3Stoke Therapeutics, IncA Double-blind Study Evaluating the Efficacy, Safety, and Tolerability of Zorevunersen in Patients With Dravet Syndrome | 2027-03 |
| NCT06908226Phase 3Longboard PharmaceuticalsA Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathy (DEE) | 2027-11-11 |
| NCT05373719Loulou FoundationObservational Study in Patients With Cyclin-dependent Kinase-like 5 Deficiency Disorder | 2027-01-20 |
| NCT05485831Jazz PharmaceuticalsEpidyolex® in Lennox Gastaut, Dravet Syndrome and Tuberous Sclerosis Complex: an Observational Study in ITALY | 2027-02 |
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Among the 17 studies in Epilepsies, Myoclonic with a site in Italy, from their registry updates:
Nothing recorded among them since 2026-09-25.
This tab as a report to print or save as PDF → With an account.
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.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Subjects with Dravet Syndrome (DS):
Healthy controls (HC):
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A condition in which the immune system attacks the body’s own tissues, such as rheumatoid arthritis, lupus, psoriasis, type 1 diabetes or inflammatory bowel disease.
Immunotherapy studies often leave out active autoimmune disease, and some name exceptions, such as thyroid disease on replacement hormone. Check the exceptions this study lists.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Autoimmune disease
A condition in which the immune system attacks the body’s own tissues, such as rheumatoid arthritis, lupus, psoriasis, type 1 diabetes or inflammatory bowel disease.
Immunotherapy studies often leave out active autoimmune disease, and some name exceptions, such as thyroid disease on replacement hormone. Check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patients with SCN1A-related Dravet Syndrome defined according to ILAE 2022 criteria and with pathogenic or likely pathogenic SCN1A variants
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)
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).
Time frame: 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.
Time frame: 12 months
Start is estimated for Sep 2026; primary completion for Mar 2028, 18 months later.
How these figures are worked out, and which studies are left out of them.
This study is not yet recruiting, as verified in Aug 2026. You cannot join it, but the record below documents what was studied.
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Fondazione Policlinico Universitario Agostino Gemelli IRCCS →