[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"dravet-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:dravet-syndrome":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,13,0,[8,47,79,104,128,160,196,223,247,269,294,315,337],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":28,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":41,"leadSponsor":43,"locationsCount":46},"100583115","phase-3-a-double-blind-study-evaluating-the-efficacy-safety-and-tolerability-of-zorevunersen-in-patients-with-dravet-syndrome-100583115",false,"NCT06872125","A Double-blind Study Evaluating the Efficacy, Safety, and Tolerability of Zorevunersen in Patients With Dravet Syndrome","EMPEROR: A Multicenter, Randomized, Double-blind, Sham-controlled, Parallel Group, Phase 3 Study Evaluating the Efficacy, Safety, and Tolerability of Zorevunersen (STK-001) in Patients With Dravet Syndrome","Key Inclusion Criteria:\n\n1. Patients must be ≥2 and \\\u003C18 years of age.\n2. Patients must have a clinical diagnosis of DS confirmed by the Epilepsy Study Consortium, Inc. (ESCI) and as defined by:\n\n   Onset, prior to 12 months (inclusive, \\\u003C13 months), of age, of recurrent focal with motor signs, hemiclonic, or generalized tonic-clonic seizures. No other known etiology causing clinical DS manifestations..\n3. Patient must have a documented pathogenic, likely pathogenic variant, or variant of uncertain significance in the sodium voltage-gated channel type 1 alpha subunit (SCN1A) gene. Patients who have SCN1A testing results of Negative (no variants identified) cannot be randomized.\n4. Patient must experience the required number of major motor seizures during the 6-week Observation Period. Major motor seizure types included are Seizure types included in counts are Hemiclonic, Focal with Motor Signs, Focal to Bilateral Tonic-Clonic, Generalized Tonic-Clonic, Tonic, Tonic\u002FAtonic (Drop Attacks with fall or risk of fall), and Bilateral Clonic.\n5. Patient must have used at least 2 prior interventions for seizures. These can include anti-seizure medications (ASMs), ketogenic diet and\u002For vagus nerve stimulation (VNS) with either lack of adequate seizure control or discontinued due to an AE(s). These interventions can be ongoing therapies.\n6. Patient must be taking at least one ASM. Benzodiazepines or ASMs used on a standing basis (i.e., not as needed \\[PRN\\]) for any indication will be considered an ASM.\n7. Patients' maintenance ASMs and interventions for seizures (i.e., ketogenic diet or VNS), as well as any marijuana- or cannabinoid-based products, must have been stable (unless adjusted for weight) during the Baseline Period.\n\nKey Exclusion Criteria:\n\n1. Patient has documented variant in the SCN1A gene associated with gain-of-function\n2. Patient is currently treated with a maintenance ASM acting primarily as a sodium channel blocker, including but not limited to phenytoin, carbamazepine, oxcarbazepine, lamotrigine, lacosamide, rufinamide, or cenobamate, given the mechanism of action of zorevunersen.\n3. Patient is currently treated with neuromodulation techniques (e.g., responsive neurostimulation, deep brain stimulation, or transcranial magnetic stimulation), with the exception of VNS.\n4. Patient has emergence of a new seizure type or reemergence of a past seizure type (seizure types that last occurred more than 12 months before Screening Visit A) during the Baseline Period, or has more than 1 hospitalization for seizures during the Baseline Period.","ALL","2 Years","17 Years",{"count":20,"type":21},170,"ESTIMATED","INTERVENTIONAL",[24],"PHASE3","The purpose of the study is to evaluate the efficacy, safety, and tolerability of zorevunersen in Patients with Dravet syndrome.",[27],"Dravet Syndrome",[29,30,31,32,33],"Pediatric epilepsy","Epileptic Encephalopathies","Refractory Myoclonic Epilepsy","Severe Myoclonic Epilepsy in Infancy","STK-001","RECRUITING","2026-06-30",{"date":37,"type":38},"2026-07-01","ACTUAL",{"date":40,"type":38},"2025-06-04",{"date":42,"type":21},"2028-10",{"name":44,"class":45},"Stoke Therapeutics, Inc","INDUSTRY",58,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":52,"acronym":53,"eligibilityCriteria":54,"healthyVolunteers":11,"sex":16,"minAge":55,"maxAge":18,"enrollmentInfo":56,"targetDuration":4,"studyType":22,"phases":58,"briefSummary":61,"conditions":62,"keywords":63,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":70,"lastUpdatePostDateStruct":71,"startDateStruct":73,"completionDateStruct":75,"leadSponsor":77,"locationsCount":5},"100471485","phase-1-a-clinical-study-to-evaluate-the-safety-and-efficacy-of-etx101-in-infants-and-children-with-scn1a-positive-dravet-syndrome-100471485","NCT05419492","A Clinical Study to Evaluate the Safety and Efficacy of ETX101 in Infants and Children With SCN1A-Positive Dravet Syndrome","ENDEAVOR: A Clinical Study to Evaluate the Safety and Efficacy of ETX101, an AAV9-Delivered Gene Therapy in Infants and Children With SCN1A-Positive Dravet Syndrome","ENDEAVOR","Inclusion Criteria:\n\n* Participant must be aged between ≥6 months and \\\u003C36 months in Part 1A, ≥48 months and \\\u003C18 years in Part 1B, ≥6 months and \\\u003C48 months in Part 2.\n* Participant must have a predicted loss of function pathogenic or likely pathogenic SCN1A variant.\n* Participant must have experienced their first seizure between the ages of 3 and 15 months.\n* Participant must have a clinical diagnosis of Dravet syndrome or the treating clinician must have a high clinical suspicion of a diagnosis of Dravet syndrome.\n* Participant is receiving at least one prophylactic antiseizure medication.\n\nExclusion Criteria:\n\n* Participant has another genetic mutation or clinical comorbidity which could potentially confound the typical Dravet phenotype.\n* Participant has a known central nervous system structural and\u002For vascular abnormality (indicated by an MRI or CT scan of the brain).\n* Participant has an abnormality that may interfere with CSF distribution and\u002For has an existing ventriculoperitoneal shunt.\n* Participant has received sodium channel blockers during the Pre-Dosing Seizure Period.\n* Participant has experienced seizure freedom for a period of 4 consecutive weeks within the 90-day period prior to informed consent.\n* Participant has previously received gene or cell therapy.\n* Participant is currently enrolled in a clinical trial or receiving an investigational therapy.\n* Participant has clinically significant underlying liver disease.","6 Months",{"count":57,"type":21},47,[59,60],"PHASE1","PHASE2","ENDEAVOR is a Phase 1\u002F2, 2-part, multicenter study to evaluate the safety and efficacy of ETX101 in participants with SCN1A-positive Dravet syndrome aged ≥6 to \\\u003C36 months (Part 1A), aged ≥48 months to \\\u003C18 years (Part 1B), and aged ≥6 to \\\u003C48 months (Part 2). Part 1A follows an open-label, dose-escalation design, Part 1B follows an open-label design, and Part 2 is a randomized, double-blind, sham delayed-treatment control study.",[27],[64,65,66,67,27,68,69],"Dravet","SCN1A","DEE","developmental and epileptic encephalopathy","SCN1A-positive","SCN1A+","2026-06-26",{"date":72,"type":38},"2026-06-29",{"date":74,"type":38},"2024-05-14",{"date":76,"type":21},"2033-01",{"name":78,"class":45},"Encoded Therapeutics",{"id":80,"slug":81,"hasResults":11,"nctId":82,"briefTitle":83,"officialTitle":84,"acronym":85,"eligibilityCriteria":86,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":87,"targetDuration":4,"studyType":22,"phases":89,"briefSummary":90,"conditions":91,"keywords":92,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":70,"lastUpdatePostDateStruct":96,"startDateStruct":97,"completionDateStruct":99,"leadSponsor":101,"locationsCount":103},"100398026","phase-3-a-study-of-epx-100-clemizole-hydrochloride-in-participants-with-dravet-syndrome-100398026","NCT04462770","A Study of EPX-100 (Clemizole Hydrochloride) in Participants With Dravet Syndrome","A 20-Week Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial of EPX-100 (Clemizole Hydrochloride) as Adjunctive Therapy in Children and Adult Participants With Dravet Syndrome (ARGUS Trial)","ARGUS","Key Inclusion Criteria:\n\n1. Male and female participants 2 years and older at time of consent.\n2. Participant or parent\u002Flegally authorized representative (LAR) willing and able to provide written informed consent and assent (if applicable) prior to initiation of any study related procedures.\n3. Clinical diagnosis of DS. Participants must have seizures which are not completely controlled by AEDs with the following criteria:\n\n   * Onset of seizures prior to 18 months of age,\n   * Normal development at onset,\n   * History of at least one type of countable motor seizure (CMS),\n   * Brain MRI without cortical malformation (not including mild atrophy associated with the natural progression of DS),\n   * Genetic mutation of the SCN1A gene must be documented.\n\nKey Exclusion Criteria:\n\n1. Known sensitivity, allergy, or previous exposure to clemizole HCl.\n2. Exposure to any investigational drug or device \\\u003C90 days prior to screening or plans to participate in another drug or device trial at any time during the study.\n3. Seizures secondary to illicit drug (this includes concomitant use of tetrahydrocannabinol \\[THC\\] and nonprescription cannabidiol preparations) or alcohol use, infection, neoplasm, demyelinating disease, degenerative neurological disease, or central nervous system disease deemed progressive, metabolic illness, or progressive degenerative disease.\n4. Concurrent use of lorcaserin. Note: Prior use of lorcaserin is permitted if at least 30 days have passed since the last dose.\n5. Concurrent use of fenfluramine.\n6. Epilepsy surgery planned during the study or epilepsy surgery within 6 months prior to Screening.",{"count":88,"type":21},150,[24],"This is a multicenter, Phase 3, randomized, double-blind, placebo-controlled study designed to evaluate the efficacy and safety of clemizole hydrochloride (EPX-100) as adjunctive therapy in children and adult participants with Dravet syndrome (DS).",[27],[93,94,29,95],"Clemizole hydrochloride","Convulsive seizure","Dravet syndrome",{"date":35,"type":38},{"date":98,"type":38},"2020-09-15",{"date":100,"type":21},"2029-05",{"name":102,"class":45},"Epygenix",60,{"id":105,"slug":106,"hasResults":11,"nctId":107,"briefTitle":108,"officialTitle":109,"acronym":4,"eligibilityCriteria":110,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":111,"enrollmentInfo":112,"targetDuration":4,"studyType":22,"phases":114,"briefSummary":115,"conditions":116,"keywords":117,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":118,"lastUpdatePostDateStruct":119,"startDateStruct":121,"completionDateStruct":123,"leadSponsor":125,"locationsCount":127},"100633827","phase-1-ascend-safety-and-tolerability-of-ion337-for-the-treatment-of-dravet-syndrome-100633827","NCT07531745","ASCEND: Safety and Tolerability of ION337 for the Treatment of Dravet Syndrome","Phase 1-2, Open-Label, Single and Multiple Ascending Dose Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intrathecally-Administered ION337 in Patients With Dravet Syndrome","Key Inclusion Criteria:\n\n1. Participant is aged ≥ 2 to ≤ 12 years old at the time of informed consent.\n2. Participant has at least 1 parent or caregiver ≥ 18 years old who is willing and able to provide informed consent (signed and dated) and attend all scheduled study visits.\n3. Has a documented diagnosis of DS according to the International League Against Epilepsy (ILAE) criteria and as agreed by the Epilepsy Study Consortium, Inc (ESCI).\n4. Has confirmation of a pathogenic or likely pathogenic SCN1A variant.\n5. Must be currently receiving ≥ 1 concomitant ASM at a stable dose\u002Fregimen for ≥ 4 weeks prior to informed consent.\n6. Must have all other interventions for epilepsy (including ketogenic diet or VNS) as well as any other concomitant medications including medications for behavioral management, sleep, and supplements or nutritional support stable for ≥ 4 weeks prior to informed consent. Vagus nerve stimulator implantation must have occurred ≥ 6 months prior to informed consent.\n7. Experiences the required number of major motor seizures during the Screening Period.\n\nKey Exclusion Criteria:\n\n1. Known brain or spinal disease that would interfere with the LP procedure or CSF circulation, or presence of other factors that would affect the safety of the LP procedure.\n2. Pathogenic or likely pathogenic variant in another gene that causes epilepsy.\n3. Has had prior treatment with or is currently enrolled in an interventional clinical trial for a gene therapy or for another antisense oligonucleotide (ASO) for the treatment of DS.\n4. Has had treatment with or is currently enrolled in an interventional clinical trial of any other investigational drug, biological agent, or device within 30 days prior to Screening, or 5 half-lives of investigational agent, whichever is longer.\n5. Current treatment with an anti-seizure medication (ASM) acting primarily as a sodium channel blocker, as maintenance treatment.\n6. Prior brain surgeries including: corpus callosotomy, implantation of device for deep brain stimulation or any other palliative brain surgery intended to reduce seizure burden.\n\nNote: Other protocol pre-specified inclusion\u002Fexclusion criteria may apply.","12 Years",{"count":113,"type":21},32,[59,60],"The primary purpose of this study is to evaluate the safety and tolerability of ION337 in participants with Dravet syndrome (DS).",[27],[95],"2026-06-20",{"date":120,"type":38},"2026-06-23",{"date":122,"type":38},"2026-05-21",{"date":124,"type":21},"2030-12",{"name":126,"class":45},"Ionis Pharmaceuticals, Inc.",3,{"id":129,"slug":130,"hasResults":11,"nctId":131,"briefTitle":132,"officialTitle":133,"acronym":4,"eligibilityCriteria":134,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":135,"enrollmentInfo":136,"targetDuration":4,"studyType":22,"phases":138,"briefSummary":139,"conditions":140,"keywords":141,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":150,"lastUpdatePostDateStruct":151,"startDateStruct":153,"completionDateStruct":155,"leadSponsor":157,"locationsCount":159},"100566839","phase-3-a-phase-3-placebo-controlled-study-to-investigate-lp352-in-children-and-adults-with-dravet-syndrome-ds-100566839","NCT06660394","A Phase 3, Placebo-Controlled Study to Investigate LP352 in Children and Adults With Dravet Syndrome (DS)","A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Investigate the Efficacy, Safety, and Tolerability of LP352 in the Treatment of Seizures in Children and Adults With Dravet Syndrome","Inclusion Criteria:\n\n* Diagnosis of DS must fulfill all of the following criteria:\n\n  1. Participants with seizure onset age \\>1 and \\\u003C20 months\n  2. The participant has a history of at least 1 of the following seizure type(s): prolonged generalized tonic-clonic, hemiclonic, myoclonic, tonic, atonic, atypical absence, focal impaired awareness, nonconvulsive status epilepticus\n* The participant has a current occurrence of at least 1 of the following countable motor seizure types: generalized tonic-clonic, tonic (bilateral), clonic (bilateral), atonic (bilateral) with truncal\u002Fleg involvement, focal motor (including hemiclonic), and focal to bilateral tonic-clonic\n* The participant has demonstrated an average of at least 4 countable motor seizures per month for the 3 months prior to Screening.\n* The participant has been taking 1 to 4 antiseizure medications (ASMs) at a stable dose for at least 4 weeks prior to Screening.\n* The participant, parent, or caregiver is willing and able (in the judgment of the investigator) to comply with completion of the diaries throughout the study.\n* The participant must be willing and able to provide written informed consent.\n\nExclusion Criteria:\n\n* The participant has a history of infantile\u002Fepileptic spasms.\n* The participant has been admitted to a medical facility for treatment of status epilepticus requiring mechanical ventilation within 3 months prior to Screening.\n* The participant has a neurodegenerative disorder as indicated by magnetic resonance imaging or genetic testing.\n* The participant has an acquired lesion\u002Finjury unrelated to the primary etiology that could contribute as a secondary cause of seizures.\n* The participant is receiving exclusionary medications.\n* The participant is currently using any cannabis product or cannabidiol that is not in oral solution\u002Fcapsule\u002Ftablet form, not obtained from a government-approved dispensary, or contains ≥50% Delta-9-tetrahydrocannabinol (THC).\n* The participant has unstable, clinically significant neurologic (other than the disease being studied, eg, recurrent strokes), psychiatric, cardiovascular (eg, pulmonary arterial hypertension, cardiac valvulopathy, orthostatic hypotension\u002Ftachycardia), pulmonary, hepatic, renal, metabolic, gastrointestinal, urologic, immunologic, hematopoietic, or endocrine disease or other abnormality which may impact the ability of the participant to participate or potentially confound the study results.\n* The participant is unwilling to comply with any of the study requirements or timelines.","65 Years",{"count":137,"type":21},160,[24],"This (DEEp SEA Study) is a double-blind, randomized, placebo-controlled, multicenter study to investigate the efficacy, safety, and tolerability of LP352 in the treatment of seizures in children and adults with DS. The study consists of 3 main phases: Screening, Titration period, and Maintenance period, followed by a Taper period and Follow-Up. Participants will be randomized to LP352 or placebo. The total duration of the study will be approximately 24 months.",[27],[142,143,144,145,146,147,148,149],"Antiseizure medication","Epilepsy","Neurodevelopmental disorders","Developmental and epileptic encephalopathy","LP352","Seizures","DEEp SEA","Bexicaserin","2026-06-11",{"date":152,"type":38},"2026-06-12",{"date":154,"type":38},"2024-09-25",{"date":156,"type":21},"2026-10-02",{"name":158,"class":45},"Longboard Pharmaceuticals",101,{"id":161,"slug":162,"hasResults":11,"nctId":163,"briefTitle":164,"officialTitle":164,"acronym":165,"eligibilityCriteria":166,"healthyVolunteers":167,"sex":16,"minAge":168,"maxAge":169,"enrollmentInfo":170,"targetDuration":4,"studyType":22,"phases":172,"briefSummary":174,"conditions":175,"keywords":178,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":185,"lastUpdatePostDateStruct":186,"startDateStruct":188,"completionDateStruct":190,"leadSponsor":192,"locationsCount":195},"100593968","a-pet-mri-study-of-serotoninergic-brainstem-pathway-in-patients-with-dravet-syndrome-100593968","NCT07013331","A PET-MRI Study of Serotoninergic Brainstem Pathway in Patients With Dravet Syndrome","DRAPETONINE","Patients with DS\n\n* Inclusion criteria\n\n  1. Adult patients (≥ 18 but \\\u003C 60 years)\n  2. Diagnosis of Dravet syndrome will be confirmed based on medical history, type of seizures, EEG data and results of genetic testing\n  3. No restriction related to the seizure frequency\n  4. Patient assent and patient (or patient's legal representative guardianship) who gave its written informed consent to participate to the study\n  5. For women of childbearing\n* Exclusion criteria\n\n  1. Subject in exclusion period of another study\n  2. MRI contra-indication (presence of metallic elements, claustrophobia, Patients unable to maintain a minimul level of immobility during the imaging acquisition)\n  3. Presence of Vagal Nerve Stimulation\n  4. Patients unable to maintain a minimul level of immobility during the imaging acquisition\n  5. Pregnant women, women in labor or breastfeeding women.\n  6. Severe renal failure (Glomerular filtration rate \\\u003C 30 ml\u002Fmin)\n  7. Hypersensitivity to \\[18F\\] MPPF\n  8. Persons deprived of their liberty by a judicial or administrative decision\n  9. Persons under psychiatric care\n  10. Persons not affiliated to a social security scheme or beneficiaries of a similar scheme\n\nPatients with drug-resistant focal epilepsy\n\n* Inclusion criteria\n\n  1. Adult patient (≥ 18 years)\n  2. Patient suffering from drug-resistant focal epilepsy according to ILAE classification\n  3. Patient in whom presurgical evaluation is considered\n  4. No restriction related to the seizure frequency\n  5. Patient who gave her\u002Fhis written informed consent to participate to the study\n  6. For women of childbearing potential, use highly effective contraception during study participation\n* Exclusion criteria\n\n  1. Subject in exclusion period of another study\n  2. MRI contra-indication (presence of metallic elements, claustrophobia)\n  3. Presence of Vagal Nerve Stimulation\n  4. Ongoing serotoninergic treatment, including selective serotonin reuptake inhibitor\n  5. Pregnant women, women in labor or breastfeeding women.\n  6. Severe renal failure (Glomerular filtration rate \\\u003C 30 ml\u002Fmin)\n  7. Hypersensitivity to \\[18F\\] MPPF\n  8. Persons deprived of their liberty by a judicial or administrative decision\n  9. Persons under psychiatric care\n  10. Persons admitted to a health or social institution for purposes other than research\n  11. Adults subject to a legal protection measure (guardianship, curatorship)\n  12. Persons not affiliated to a social security scheme or beneficiaries of a similar scheme\n\nHealthy controls\n\n* Inclusion criteria\n\n  1. Presence of the symptoms of anxiety and\u002For depression as defined by a score ≥ 11 at the French version of the Hospital Anxiety and Depression Scale (HADS)\n  2. Ongoing treatment with selective serotonin reuptake inhibitor\n  3. MRI contra-indication (presence of metallic elements, claustrophobia)\n  4. Pregnant women, women in labor or breastfeeding women.\n  5. Severe renal failure (Glomerular filtration rate \\\u003C 30 ml\u002Fmin)\n  6. Hypersensitivity to \\[18F\\] MPPF\n  7. Persons deprived of their liberty by a judicial or administrative decision\n  8. Persons under psychiatric care\n  9. Persons admitted to a health or social institution for purposes other than research\n  10. Adults subject to a legal protection measure (guardianship, curatorship)\n  11. Persons not affiliated to a social security scheme or beneficiaries of a similar scheme\n* Exclusion criteria\n\n  1. Presence of the symptoms of anxiety and\u002For depression as defined by a score ≥ 11 at the French version of the Hospital Anxiety and Depression Scale (HADS)\n  2. Ongoing treatment with selective serotonin reuptake inhibitor\n  3. MRI contra-indication (presence of metallic elements, claustrophobia)\n  4. Pregnant women, women in labor or breastfeeding women.\n  5. Severe renal failure (Glomerular filtration rate \\\u003C 30 ml\u002Fmin)\n  6. Hypersensitivity to \\[18F\\] MPPF\n  7. Persons deprived of their liberty by a judicial or administrative decision\n  8. Persons under psychiatric care\n  9. Persons admitted to a health or social institution for purposes other than research\n  10. Adults subject to a legal protection measure (guardianship, curatorship)\n  11. Persons not affiliated to a social security scheme or beneficiaries of a similar scheme",true,"18 Years","60 Years",{"count":171,"type":21},30,[173],"NA","Dravet Syndrome (DS) is a severe neurodevelopmental disease, which is predominantly caused by mutations of SCN1A, the gene coding for Nav1.1 voltage-gated sodium channels. DS is characterized by infancy onset, severe cognitive deficit and drug-resistant seizures, including several generalized convulsive seizures per day and frequent status epilepticus, often triggered by fever or hyperthermia. Among the causes of premature deaths in patients with epilepsy, sudden and unexpected death in epilepsy (SUDEP) represents a major cause. SUDEP is a non-traumatic and non-drowning death in patients with epilepsy, unrelated to a documented status epilepticus. The risk of SUDEP is particularly high in patients suffering from DS, reaching about 9\u002F1000-person-year, as compared to about 1\u002F1000-person-year in people with epilepsy including all disease types. The main clinical risk factor of SUDEP is the frequency of convulsive seizures. Beyond improving seizure control, which we showed to mitigate the SUDEP risk, more specific preventive treatment strategies are still lacking.\n\nExperimental and clinical data suggest that most SUDEP cases result from postictal brainstem dysfunction, including central respiratory arrest There is a body of evidence suggesting involvement of serotonin (5HT) dysfunction both in the pathogenesis of epilepsy in DS and in seizure-related respiratory dysfunction. Serotonin indeed plays a key role in the regulation of respiration. Population firing of serotoninergic neurons in the medullary raphe is significantly decreased during the ictal and post-ictal periods, in association with decreased breathing and heart rate during and after seizures. Most importantly, post-mortem data in patients, including DS, showed alteration of neuronal populations in the medulla in SUDEP cases with evidence for greater reduction in neuromodulatory neuropeptidergic and monoaminergic, including serotoninergic, systems.\n\nSUDEP in DS might therefore be the result of a seizure-induced fatal apnea in a patient who has developed epilepsy-related vulnerability to central respiratory dysfunction favored by 5HT dysfunction. However, several issues remain to be addressed to identify detailed mechanisms and effective therapies. Among them, a key issue is the exact relation between the alterations of the 5HT pathway observed in DS and epilepsy-related respiratory dysfunction\n\nIn the present study, the hypothesis is that adult patients with DS might demonstrate specific alterations of the 5HT pathway within the brainstem as assessed by PET imaging. The DRAPETOTINE study will thus focus on imaging 5HT brainstem pathway with PET and MRI in patients with DS to assess if abnormalities can be observed and through comparison with data collected in patients drug-resistant focal epilepsy whether these abnormalities are DS specficic or reflect the consequence on brainstem 5HT pathway of refractory seizures.\n\nThis study will involve 20 adult patients, including 10 adults with established diagnosis of Dravet Syndrome and 10 patients with drug-resistant focal epilepsy. Ten healthy adults will also be included. Participants will be recruited over a period of 18 months and the duration of participation for each participant will be 2 weeks to 8 weeks",[143,27,176,177],"Drug Resistant Epilepsy","Healthy Controls",[179,95,180,181,182,183,184],"epilepsy","drug-resistant focal epilepsy","serotonin","PET-MRI","MPPF","SUDEP","2026-05-05",{"date":187,"type":38},"2026-05-08",{"date":189,"type":38},"2026-05-04",{"date":191,"type":21},"2028-01-04",{"name":193,"class":194},"Hospices Civils de Lyon","OTHER",1,{"id":197,"slug":198,"hasResults":11,"nctId":199,"briefTitle":200,"officialTitle":201,"acronym":202,"eligibilityCriteria":203,"healthyVolunteers":11,"sex":16,"minAge":204,"maxAge":4,"enrollmentInfo":205,"targetDuration":4,"studyType":22,"phases":207,"briefSummary":209,"conditions":210,"keywords":211,"overallStatus":213,"whyStopped":4,"lastUpdateSubmitDate":214,"lastUpdatePostDateStruct":215,"startDateStruct":217,"completionDateStruct":219,"leadSponsor":221,"locationsCount":195},"100601582","phase-4-the-fintepla-as-an-anti-sudep-therapy-in-dravet-syndrome-project-100601582","NCT07112365","The FINTEPLA as an Anti-SUDEP Therapy in Dravet Syndrome Project","The FINTEPLA as an Anti-SUDEP Therapy in Dravet Syndrome (FAST-DS) Project.","FAST-DS","Inclusion Criteria:\n\n* DS patients (with or without SCN1A pathogenic mutations)\n* Generalized convulsive seizures\n\nExclusion Criteria:\n\n* known cardiorespiratory, hepatic or renal disease, and\u002For\n* allergic reactions or other contraindications to fenfluramine and\u002For\n* on Stiripentol treatment, and\u002For\n* on serotonergic medications, and\u002For\n* contraindications to Midazolam anesthesia\n* taken the following drugs within 14 days: monoamine oxidase inhibitors (MAOIs), anti-depressants (Selective Serotonin Reuptake Inhibitors (SSRIs), Serotonin and norepinephrine reuptake inhibitors (SNRIs), and Tricyclic antidepressants (TCAs)), St. John's Wort, Tryptophan, and Dextromethorphan","16 Years",{"count":206,"type":21},25,[208],"PHASE4","This study investigates cerebrovascular reactivity (CVR) and functional brain connectivity in Dravet Syndrome (DS) patients with convulsive seizures. Using functional MRI (fMRI), we will define differences in brain responses to CO₂ changes before administration of the drug Fintepla (Baseline), with a library of healthy controls and with those obtained after administration of Fintepla (Day \\~60). Changes in CVR and their relation to ventilatory responses will also be assessed during fMRI.",[27],[179,212],"Sudden Unexpected Death in Epilepsy (SUDEP)","NOT_YET_RECRUITING","2026-03-31",{"date":216,"type":38},"2026-04-03",{"date":218,"type":21},"2026-04",{"date":220,"type":21},"2028-03-31",{"name":222,"class":194},"The University of Texas Health Science Center, Houston",{"id":224,"slug":225,"hasResults":11,"nctId":226,"briefTitle":227,"officialTitle":227,"acronym":228,"eligibilityCriteria":229,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":230,"enrollmentInfo":231,"targetDuration":4,"studyType":233,"phases":4,"briefSummary":234,"conditions":235,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":237,"lastUpdatePostDateStruct":238,"startDateStruct":240,"completionDateStruct":242,"leadSponsor":244,"locationsCount":246},"100449010","multicentre-real-life-follow-up-study-of-rare-epileptic-syndromes-in-children-and-adolescents-100449010","NCT05126914","Multicentre Real-life Follow-up Study of Rare Epileptic Syndromes in Children and Adolescents","EPIRARE","Inclusion Criteria:\n\n* Diagnosis for rare epilepsy (based on ORPHA codes)\n* holders of parental authority not opposed\n* Be followed in one of the declared centers of the study\n\nExclusion Criteria:\n\n* opposition from the holders of parental authority or the patient","15 Years",{"count":232,"type":21},1000,"OBSERVATIONAL","Rare epilepsies as a whole account for 20-30% of epilepsies, but knowledge about prognostic factors is currently limited. This means that it is difficult to provide adequate information to families at diagnosis and during follow-up. Prognostic factors are also important for management as they can have an impact on the patient's outcome (time to intervention, choice of one molecule over another, etc.). Finally, few treatments are currently available for these epilepsies. One of the limitations to the development of treatments is the lack of real life data as it is difficult to create reliable primary endpoints such as the rate of patients becoming seizure free naturally compared to a therapeutic intervention.\n\nThe aim of this real-life study is to evaluate the response to treatment as well as to see the evolution of cognitive and psychiatric comorbidities. As explained above, there are very few randomised trials except for 3 rare epilepsies (infantile spasm syndrome, Dravet syndrome, Lennox-Gastaut syndrome). This has led to the virtual absence of management recommendations, including for the three syndromes mentioned above, where attempts at treatment algorithms have been proposed, although these have not been able to be considered as evidence-based recommendations.\n\nAs a result, there is some diversity in the management of rare epilepsies from one centre to another. However, this diversity in management can be an asset in a real-life study. This will make it possible to compare different management methods, both in terms of seizure control and medium-term outcome.",[143,236,27],"West Syndrome","2026-02-23",{"date":239,"type":38},"2026-02-24",{"date":241,"type":38},"2025-12-11",{"date":243,"type":21},"2028-12",{"name":245,"class":194},"Assistance Publique - Hôpitaux de Paris",11,{"id":248,"slug":249,"hasResults":11,"nctId":250,"briefTitle":251,"officialTitle":251,"acronym":252,"eligibilityCriteria":253,"healthyVolunteers":11,"sex":16,"minAge":55,"maxAge":254,"enrollmentInfo":255,"targetDuration":4,"studyType":233,"phases":4,"briefSummary":257,"conditions":258,"keywords":259,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":261,"lastUpdatePostDateStruct":262,"startDateStruct":264,"completionDateStruct":266,"leadSponsor":268,"locationsCount":195},"100612291","longitudinal-study-of-phenotypic-and-developmental-severity-in-patients-with-dravet-syndrome-with-scn1a-gene-mutation-100612291","NCT07251673","Longitudinal Study of Phenotypic and Developmental Severity in Patients With Dravet Syndrome With SCN1A Gene Mutation","LONG-DS","Inclusion Criteria:\n\n* The patient or his\u002Fher legal representative must be able to give informed consent for participation in the study.\n* The participant or legal representative are able (in the opinion of the investigator) to comply with the research protocol.\n* Patient (male\u002Ffemale) between 6 months and 21 years of age inclusive at the time of consent.\n* The patient has a confirmed pathogenic or probably pathogenic variant of the SCN1A gene demonstrated by a genetic test.\n* The patient had normal development prior to the onset of the first seizure.\n* The patient had an onset of epileptic seizures between the ages of 3 and 15 months inclusive.\n* The patient is receiving at least one of the following anti-epileptic drugs prior to consent: brivaracetam, clobazam, cannabidiol, fenfluramine, levetiracetam, sodium valproate, stiripentol, topiramate\n\nExclusion Criteria:\n\n* The patient has a copy number variation of the SCN1A gene affecting other genes, including a microdeletion of SCN1A.\n* The patient has a mutation in the SCN1A gene on both alleles.\n* The patient has a known or clinically suspected pathogenic mutation in a gene associated with epilepsy other than the SCN1A gene.\n* The patient has a concomitant genetic mutation or clinical comorbidity deemed likely to disrupt the typical phenotype of Dravet syndrome.\n* The patient has a known gain-of-function mutation, defined by functional studies, including p.Thr226Met.\n* The patient has a history of neurodevelopmental abnormality prior to the onset of seizures, based on the medical record.\n* The patient has been seizure free for a period of one year prior to informed consent.\n* The patient has, at any time, taken antiepileptic drugs with a worsening effect for 6 consecutive weeks or more, including: carbamazepine, eslicarbazepine, lacosamide, lamotrigine, oxcarbazepine, phenytoin (chronic oral administration), tiagabine and vigabatrin.\n* The patient has already received innovative therapies such as antisense ologonucleotides, gene therapy or cell therapy.\n* The patient has a structural abnormality on brain imaging (MRI or CT scan) which the principal investigator considers to be an epileptogenic lesion.","21 Years",{"count":256,"type":21},50,"Dravet syndrome with SCN1A gene mutation is a developmental and epileptic encephalopathy characterized by treatment-resistant epilepsy and global developmental delay.\n\nDespite the considerable attention recently Dravet syndrome (DS) in drug development, studies characterising the progression of the neurodevelopmental phenotype over time remain limited. In particular, many previous studies of natural history studies have been of short duration or have focused only on a subgroup of the paediatric population.\n\nThis prospective natural history study is being conducted to define more precisely the neurodevelopmental trajectory of SCN1A-positive Dravet syndrome in patients aged aged 6 months to 21 years with SCN1A mutations. The study will examine these characteristics over a 4-year period using standardised assessments. The study will also explore potential metabolomic biomarkers and their relationship with clinical outcomes.",[27],[260,179],"Dravet syndrom","2026-02-02",{"date":263,"type":38},"2026-02-03",{"date":265,"type":38},"2025-09-15",{"date":267,"type":21},"2030-10-01",{"name":245,"class":194},{"id":270,"slug":271,"hasResults":11,"nctId":272,"briefTitle":273,"officialTitle":274,"acronym":4,"eligibilityCriteria":275,"healthyVolunteers":11,"sex":16,"minAge":168,"maxAge":135,"enrollmentInfo":276,"targetDuration":4,"studyType":22,"phases":278,"briefSummary":279,"conditions":280,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":284,"lastUpdatePostDateStruct":285,"startDateStruct":287,"completionDateStruct":289,"leadSponsor":291,"locationsCount":293},"100546943","phase-2-bmb-101-in-absence-epilepsy-and-dee-100546943","NCT06401538","BMB-101 in Absence Epilepsy and DEE","An Open-Label Phase 2 Study to Evaluate the Efficacy, Safety and Tolerability of BMB-101 in Adults With Either Classic Absence Epilepsy (With or Without Eyelid Myoclonia (EEM; Jeavons Syndrome), OR Developmental Epileptic Encephalopathy (DEE).","Inclusion Criteria:\n\n1. Subjects must have a diagnosis of Absence Epilepsy with or without eyelid myoclonia (Jeavons Syndrome) or a diagnosis of Developmental and Epileptic Encephalopathy (DEE) such as Dravet syndrome or Lennox-Gastaut syndrome or other DEE.\n2. Subjects with Absence must experience at least 4 episodes of 3-4\u002Fsecond SWD lasting at least 3 seconds each in a 24 hour EEG during the baseline period. Those with DEE must have a typical EEG pattern for DEE on routine EEG and experience at least 4 seizures during the 4 week baseline period prior to BMB-101 administration.\n3. Subjects can be male or female ages 18-65 inclusive at time of baseline.\n4. Subject must have tried at least one anti-seizure medication at a recommended dose and duration and must be on a stable dose on their current anti-seizure medications for at least 4 weeks prior to baseline and remain stable throughout the study.\n5. Subjectis willing and able to be compliant with diary completion, visit schedule, and study drug accountability.\n6. Female subjects of childbearing potential must have a negative urine pregnancy test at baseline. Subjects of childbearing or child-fathering potential must be willing to use medically acceptable forms of birth control, which includes abstinence, while in this study and for 90 days after the last dose of study drug.\n\nExclusion Criteria:\n\n1. Subject has current or past history of cardiovascular or cerebrovascular disease, such as cardiac valvulopathy, pulmonary hypertension, myocardial infarction or stroke, or clinically significant structural cardiac abnormality.\n2. Subject has moderate or severe hepatic impairment. Asymptomatic subjects with mild hepatic impairment (elevated liver enzymes \\\u003C 3x upper limit of normal (ULN) and\u002For elevated bilirubin \\\u003C2x ULN) may be entered into the study after review and approval by the Medical Monitor in conjunction with the sponsor, in consideration of comorbidities and concomitant medications.\n3. Subject has severe renal impairment (estimated glomerular filtration rate \\\u003C30mL\u002Fmin\u002F1.73m2)\n4. Clinically significant ECG abnormality such as QTcF \\>450 msec (males) or \\>470 msec (females)\n5. Subject is receiving concomitant therapy with: fenfluramine, lorcaserin, monoamine-oxidase inhibitors, SSRIs, SNRIs, tricyclic antidepressants or other serotonergic agonists or antagonists (antipsychotics).\n6. Subject is currently receiving an investigational medicinal product.\n7. Subject has participated in another clinical trial within the past 30 days (calculated from that study's last scheduled visit). Participation in non-treatment trials will be reviewed by the medical monitor.\n8. Subject has a history of drug or alcohol abuse within the last 12 months or a positive urine drug screen (with the exception of cannabinoids).\n9. A current C-SSRS score of 4 or 5 at baseline or history of suicide attempt at any time during the past year\n10. Subject has a clinically significant condition or has had clinically relevant symptoms or a clinically significant illness in the 4 weeks prior to the Baseline Visit, other than epilepsy, that would negatively impact study participation, collection of study data, or pose a risk to the subject.",{"count":277,"type":21},20,[60],"The study is a pilot, open-label, study to test whether BMB-101 is safe and effective in reducing the frequency of seizures in subjects with Absence Epilepsy including Epilepsy with Eyelid Myoclonia (also called Jeavons Syndrome) as well as Developmental Epileptic Encephalopathies such as Dravet and Lennox Gastaut. The study will last up to 6 months. There will be a 1 month screening period, then up to 3 months on open-label BMB-101 including titration and tapering\u002Fwashout periods, and then a 1 month follow-up period. There will be 6 clinic visits.",[281,282,27,283],"Absence Epilepsy","Jeavons Syndrome","Lennox Gastaut Syndrome","2025-08-07",{"date":286,"type":38},"2025-08-12",{"date":288,"type":38},"2024-12-05",{"date":290,"type":21},"2025-11-30",{"name":292,"class":45},"Bright Minds Biosciences Pty Ltd",5,{"id":295,"slug":296,"hasResults":11,"nctId":297,"briefTitle":298,"officialTitle":299,"acronym":4,"eligibilityCriteria":300,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":135,"enrollmentInfo":4,"targetDuration":4,"studyType":301,"phases":4,"briefSummary":302,"conditions":303,"keywords":305,"overallStatus":309,"whyStopped":4,"lastUpdateSubmitDate":310,"lastUpdatePostDateStruct":311,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":313,"locationsCount":314},"100527584","intermediate-size-expanded-access-protocol-eap-for-lp352-100527584","NCT06149663","Intermediate-Size Expanded Access Protocol (EAP) for LP352","Expanded Access Treatment with LP352 for Patients with Developmental and Epileptic Encephalopathies (DEEs) Who Successfully Completed an LP352 Clinical Trial (Intermediate-Size EAP)","Inclusion Criteria:\n\n1. Participant and\u002For participant's legally authorized representative is willing and able to provide a written informed consent or assent form before participation in this EAP. An assent should be obtained from the patient, if possible. Assent must be obtained for adolescent EAP patients (\\\u003C18 years of age) as required by local regulations.\n2. Participant with DEE who has successfully completed an LP352 Clinical Trial.\n3. Participant currently has clinical benefit from LP352 treatment, as assessed by their Treating Physician.\n4. Participant currently tolerates LP352 treatment and has no safety issue which would prevent continued treatment.\n\nExclusion Criteria:\n\n1. Participant was discontinued from an LP352 Clinical Trial for any reason.\n2. Any serious and\u002For unstable new medical condition, psychiatric disorder, or other conditions at the time of transition to this EAP that could interfere with patient's safety, obtaining informed consent, assent, or compliance to this EAP protocol, in the opinion of the Treating Physician.","EXPANDED_ACCESS","This is an intermediate-size expanded access program (EAP) study. The purpose of this EAP is to provide continued access to LP352, an investigational drug product being investigated in participants with DEEs. The EAP study will allow continued treatment with LP352 for eligible participants diagnosed with treatment resistant DEEs who successfully completed an LP352 Clinical Trial (Enrollment by Invitation) or an immediate family member who has the exact same gene mutation resulting in the same DEE epilepsy syndrome phenotype or a patient who previously participated in the lorcaserin EAP.",[27,283,304],"Developmental and Epileptic Encephalopathies",[306,67,27,179,283,307,308],"CDKL5 deficiency disorder","treatment resistant epilepsy","tuberous sclerosis complex","AVAILABLE","2025-01-20",{"date":312,"type":38},"2025-01-22",{"name":158,"class":45},22,{"id":316,"slug":317,"hasResults":11,"nctId":318,"briefTitle":319,"officialTitle":319,"acronym":4,"eligibilityCriteria":320,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":321,"targetDuration":4,"studyType":233,"phases":4,"briefSummary":323,"conditions":324,"keywords":325,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":328,"lastUpdatePostDateStruct":329,"startDateStruct":331,"completionDateStruct":333,"leadSponsor":335,"locationsCount":195},"100554855","scn1a-horizons-a-natural-history-study-of-scn1a-related-epilepsies-in-the-united-kingdom-100554855","NCT06504511","SCN1A Horizons A Natural History Study of SCN1A-related Epilepsies in the United Kingdom","Patients meeting the following inclusion criteria will be considered eligible for this study:\n\n1. Patient and\u002For legally authorised representative must be willing and able to give informed consent\u002Fassent for participation in the study.\n2. Patient and parent\u002Fcaregiver are willing and able (in the Investigator's opinion) to comply with all study requirements (including ability and willingness to comply with virtual visits).\n3. Participant has a confirmed pathogenic (class 5) or likely pathogenic (class 4. SCN1A variant, as demonstrated by genetic testing.\n\nExclusion criteria:\n\nPatient has any other significant disease or disorder which, in the opinion of the Investigator, may either put the patient at risk because of participation in the study, or may affect the patient's ability to participate in the study.",{"count":322,"type":21},400,"The aims of this prospective natural history study are to define the seizure, neuro-developmental, and behavioural characteristics of SCN1A-related epilepsies\u002FDravet syndrome in children and adults longitudinally over a period of three years. In addition, this study will compare missense and truncating genotypes in terms of i) rates of change of countable convulsive seizures per month and ii) neurodevelopmental outcome and trajectories.",[65,27,143],[143,65,326,327],"Natural History","Developmental Outcome","2024-07-15",{"date":330,"type":38},"2024-07-16",{"date":332,"type":38},"2023-11-20",{"date":334,"type":21},"2026-06-01",{"name":336,"class":194},"NHS Greater Glasgow and Clyde",{"id":338,"slug":339,"hasResults":11,"nctId":340,"briefTitle":341,"officialTitle":342,"acronym":4,"eligibilityCriteria":343,"healthyVolunteers":167,"sex":16,"minAge":4,"maxAge":168,"enrollmentInfo":344,"targetDuration":4,"studyType":233,"phases":4,"briefSummary":346,"conditions":347,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":348,"lastUpdatePostDateStruct":349,"startDateStruct":351,"completionDateStruct":353,"leadSponsor":355,"locationsCount":195},"100489291","gaba-biomarkers-in-dravet-syndrome-100489291","NCT05651204","GABA Biomarkers in Dravet Syndrome","Electrophysiological Biomarkers of GABA Metabolism in Children With SCN1A+ Dravet Syndrome","Inclusion Criteria:\n\n1. Authorized representative (parent\u002Fcaregiver) must be willing and able to give informed consent for the participant's participation in the study. Participants capable of providing informed assent must be willing to provide their assent.\n2. Participant and their parent\u002Fcaregiver are willing and able (in the PI's opinion) to comply with all study requirements.\n3. Participant is male or female aged between 0 months and 18 years of age, inclusive, at the time of consent.\n4. Participant has a confirmed pathogenic or likely pathogenic SCN1A mutation, as demonstrated by genetic testing.\n5. Participant had normal development prior to onset of first seizure as defined by the Centers for Disease Control and Prevention (CDC 2019).\n6. Participant had an onset of seizures, defined as first focal clonic\u002Fhemiclonic, generalized\u002Ffocal, generalized tonic-clonic\u002Fclonic, atonic, prolonged seizure, or status epilepticus between age 3 and 5 months, inclusive.\n7. Participant should have an evaluation by a pediatric neurologist with a diagnosis of DS.\n\nExclusion Criteria:\n\n1. Participant has a copy number variant of SCN1A, including SCN1A microdeletion, affecting other genes.\n2. Participant has an SCN1A mutation present on both alleles.\n3. Participant has a known pathogenic or clinically suspected mutation in a seizure-associated gene besides SCN1A.\n4. Participant has a confirmed mutation in a gene besides SCN1A, that is known to increase the severity of the seizure phenotype.\n5. Participant has a known gain-of-function mutation, as defined by functional studies, including p.Thr226Met.\n6. Participant has a history of notable developmental deficit that was evident prior to seizure onset, by physician report.\n7. Participant has a known central nervous system structural abnormality as found on magnetic resonance imaging or computed tomography scan of brain which, in the opinion of the Principal Investigator (PI), is not consistent with the clinical phenotype of DS. Note: Prior scans may be used, and no new scan is required to confirm normal imaging.\n8. Metal implants.\n9. Baclofen pump.\n10. Inability or unwillingness of patient or parent\u002Flegally authorized representative to give written informed consent (and\u002For assent as appropriate).",{"count":345,"type":21},36,"This study will non-invasively obtain levels of GABA in the brain of children with SCN1A+DS and neurodeveloping children through evoked and induced cortical responses, correlate them with the BOLD responses, and with the levels of GABA in their blood.",[27],"2022-12-13",{"date":350,"type":38},"2022-12-14",{"date":352,"type":38},"2022-09-08",{"date":354,"type":21},"2027-09-08",{"name":356,"class":194},"Cook Children's Health Care System"]