ORPHA:33069
Dravet syndrome
Also known as: SMEI · Severe myoclonic epilepsy of infancy · Severe myoclonus epilepsy of infancy
Publications
6,681
Trials
51
Interventional, condition-specific
Researchers
1,209
Distinct authors in sample
Gene link
—
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, developmental and epileptic characterized by onset of intractable that are often febrile, and associated with cognitive and motor impairment.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
4/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
6,681 matched papers (5,209 in last 10 years) Source
- Phenotype characterisedPresent
46 HPO annotations (e.g. Autistic behavior; Anxiety; Parkinsonism) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationPresent
10 FDA · 6 EMA designations (8 FDA orphan-indication approvals) — e.g. Lorcaserin Source
- Interventional trialPresent
51 matched on ClinicalTrials.gov (13 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
46
Associated phenotypes · MONDO:0011794
- Autistic behavior
- Anxiety
- Parkinsonism
- Photosensitive myoclonic seizure
- Myoclonus
Showing 5 of 46 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
16
Designations · 8 with FDA orphan-indication approval
- FDA LorcaserinDravet Syndrome · 2020-08-31 · Not FDA Approved for Orphan Indication
- FDA diazepamDravet Syndrome · 2018-05-23 · Not FDA Approved for Orphan Indication
- FDA cannabidiolDravet Syndrome · 2017-12-21 · Not FDA Approved for Orphan Indication
- FDA trazodoneDravet Syndrome · 2017-08-18 · Not FDA Approved for Orphan Indication
- FDA clemizoleDravet Syndrome · 2017-04-19 · Not FDA Approved for Orphan Indication
- FDA lorcaserinDravet Syndrome · 2017-04-17 · Not FDA Approved for Orphan Indication
- FDA Huperzine ADravet Syndrome · 2017-04-12 · Not FDA Approved for Orphan Indication
- FDA cannabidiolDravet Syndrome · 2014-07-01 · Not FDA Approved for Orphan Indication
Sources: FDA OOPD · EMA orphan designations
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
6,681
6,681 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
6,681 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
5,209 in the last 10 years · low confidence
Phrase hits: 6,681 · MeSH hits: 0
Who's working on it?
1,209
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Brunklaus A6 papers · 2026
School of Health and Wellbeing, Royal Hospital for Children, University of Glasgow, Glasgow, UK.
Papers in Europe PMC - 02Cross JH6 papers · 2026
UCL NIHR BRC Great Ormond Street Institute of Child Health, London, UK.
Papers in Europe PMC - 03Nabbout R6 papers · 2026
Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Hopital Necker Enfants Malades, Member of European Network EPICARE, INSERM, UMR 1163, Translational Research for Neurological Disorders, Insititut Imagine, Université Paris cité, Paris, France.
Papers in Europe PMC - 04Perry MS6 papers · 2026
Jane and John Justin Institute for Mind Health, Cook Children's Medical Center, Ft. Worth, TX, USA. Electronic address: scott.perry@cookchildrens.org.
Papers in Europe PMC - 05Scheffer IE6 papers · 2026
University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australia.
Papers in Europe PMC - 06Striano P6 papers · 2026
Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, "G. Gaslini" Institute, University of Genoa, Genoa, Italy.
Papers in Europe PMC - 07Strzelczyk A6 papers · 2026
Epilepsiezentrum Frankfurt Rhein-Main, Zentrum der Neurologie Und Neurochirurgie, Universitätsmedizin Frankfurt, Goethe-Universität Frankfurt, Frankfurt am Main, Germany.
Papers in Europe PMC - 08Goldberg EM5 papers · 2026
Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States.
Papers in Europe PMC - 09
- 10Lal D5 papers · 2026
Cleveland Clinic Lerner Research Institute, Cleveland, Ohio, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
51
interventional trials for this specific condition
51 interventional trials matched this specific condition name; 13 currently recruiting in our sample.
Data as of 11 September 2026
51 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.2th percentile).
low confidence · 97.2th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
51 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07013331·RECRUITING·A PET-MRI Study of Serotoninergic Brainstem Pathway in Patients With Dravet Syndrome
Not reviewed·Conditions: Epilepsy · Dravet Syndrome · Drug Resistant Epilepsy · Healthy Controls·Matched via name phrase
- NCT06401538·RECRUITING·BMB-101 in Absence Epilepsy and DEE
Not reviewed·Conditions: Absence Epilepsy · Jeavons Syndrome · Dravet Syndrome · Lennox Gastaut Syndrome·Matched via name phrase
- NCT06738732·NOT YET RECRUITING·CBD Delivery with the A-Synaptic GT4 Transdermal Delivery System in with Dravet Syndrome And/or Lennox-Gastaut Syndrome
Not reviewed·Conditions: Lennox-Gastaut Syndrome (LGS) · Dravet Syndrome (DS)·Matched via name phrase
- NCT06924827·NOT YET RECRUITING·A Study to Investigate the Transition of Children From 'Artisanal" Cannabidiol (CBD) to Epidiolex
Not reviewed·Conditions: Dravet Syndrome (DS) · Lennox-Gastaut Syndrome (LGS)·Matched via name phrase
- NCT07225231·NOT YET RECRUITING·Clinical Utility of Reduced EEG Home Monitoring in Fenfluramine Titration for Dravet and LGS
Not reviewed·Conditions: Dravet Syndrome (DS) · Lennox Gastaut Syndrome (LGS)·Matched via name phrase
- NCT07112365·RECRUITING·The FINTEPLA as an Anti-SUDEP Therapy in Dravet Syndrome Project
Not reviewed·Conditions: Dravet Syndrome·Matched via name phrase
- NCT06598449·RECRUITING·Assessment of Safety of the Use of Fenfluramine in Children With Dravet Syndrome Under 24 Months of Age
Not reviewed·Conditions: Dravet Syndrome (DS) · Children Under 2 Years·Matched via name phrase
- NCT06660394·RECRUITING·A Phase 3, Placebo-Controlled Study to Investigate LP352 in Children and Adults With Dravet Syndrome (DS)
Not reviewed·Conditions: Dravet Syndrome·Matched via name phrase
- NCT06872125·RECRUITING·A Double-blind Study Evaluating the Efficacy, Safety, and Tolerability of Zorevunersen in Patients With Dravet Syndrome
Not reviewed·Conditions: Dravet Syndrome·Matched via name phrase
- NCT04462770·RECRUITING·A Study of EPX-100 (Clemizole Hydrochloride) in Participants With Dravet Syndrome
Not reviewed·Conditions: Dravet Syndrome·Matched via name phrase
- NCT07675746·RECRUITING·A Study to Evaluate the Safety and Pharmacokinetics of RC001 in Children With Dravet Syndrome
Not reviewed·Conditions: Dravet Syndrome (DS)·Matched via name phrase
- NCT07531745·RECRUITING·ASCEND: Safety and Tolerability of ION337 for the Treatment of Dravet Syndrome
Not reviewed·Conditions: Dravet Syndrome·Matched via name phrase
- NCT05419492·RECRUITING·A Clinical Study to Evaluate the Safety and Efficacy of ETX101 in Infants and Children With SCN1A-Positive Dravet Syndrome
Not reviewed·Conditions: Dravet Syndrome·Matched via name phrase
Observational and natural-history studies
19 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT05651204·RECRUITING·GABA Biomarkers in Dravet Syndrome
Not reviewed·Conditions: Dravet Syndrome·Matched via name phrase
- NCT06504511·RECRUITING·SCN1A Horizons A Natural History Study of SCN1A-related Epilepsies in the United Kingdom
Not reviewed·Conditions: SCN1A · Dravet Syndrome · Epilepsy·Matched via name phrase
- NCT05126914·RECRUITING·Multicentre Real-life Follow-up Study of Rare Epileptic Syndromes in Children and Adolescents
Not reviewed·Conditions: Epilepsy · West Syndrome · Dravet Syndrome·Matched via name phrase
- NCT07251673·RECRUITING·Longitudinal Study of Phenotypic and Developmental Severity in Patients With Dravet Syndrome With SCN1A Gene Mutation
Not reviewed·Conditions: Dravet Syndrome·Matched via name phrase
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 15 · after dedupe 15 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 15 · dropped 0 · fetched 2026-07-29
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (15)
- ctis·2025-523835-20-00·Authorised·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
skipped — LLM skipped (--skip-llm)
- ctis·2025-524199-40-00·Authorised, ongoing·A PET-MRI study of serotoninergic brainstem pathway in patients with Dravet Syndrome - DRAPETONINE
skipped — LLM skipped (--skip-llm)
- ctis·2024-519555-28-00·Authorised, recruiting·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
skipped — LLM skipped (--skip-llm)
- ctis·2024-514937-39-00·Authorised, ongoing·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
skipped — LLM skipped (--skip-llm)
- ctis·2024-520103-38-00·Cancelled·Bioavailability study of stiripentol after single oral administration of two different formulations (capsule and oral suspension) in 24 healthy subjects
skipped — LLM skipped (--skip-llm)
- ctis·2024-518628-57-00·Authorised, ongoing·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)
skipped — LLM skipped (--skip-llm)
- ctis·2024-515680-61-00·Cancelled·An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy for Seizures in Patients with Rare Seizure Disorders Such as Epileptic Encephalopathies Including Dravet Syndrome and Lennox-Gastaut Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2022-502802-34-00·Cancelled·A phase 3, prospective, open-label, multisite, extension of phase 3 studies to assess the long-term safety and tolerability of soticlestat as adjunctive therapy in subjects with Dravet Syndrome or Lennox-Gastaut Syndrome (ENDYMION 2)
skipped — LLM skipped (--skip-llm)
- ctis·2023-505851-33-00·Cancelled·An Open-label, Single-arm Study to Assess the Safety, Pharmacokinetics, and Efficacy of Adjunctive Cannabidiol Oral Solution (GWP42003‑P) in Participants with Tuberous Sclerosis Complex (1 Month to < 2 Years of Age), Dravet Syndrome (1 Year to < 2 Years of Age), or Lennox-Gastaut Syndrome (1 Year to < 2 Years of Age) who Experience Inadequately‑controlled Seizures
skipped — LLM skipped (--skip-llm)
- ctis·2023-504104-29-00·Cancelled·An Open-label, Non-randomized, Phase 3 Study to Evaluate the Efficacy and Safety of Soticlestat in Participants With Dravet Syndrome or Lennox-Gastaut Syndrome Who Have Been Exposed to Fenfluramine.
skipped — LLM skipped (--skip-llm)
- ctis·2022-502359-75-00·Authorised, recruiting·Open-label, Single-arm, Phase 3 Study to Evaluate Safety, Tolerability, and Pharmacokinetics of Fenfluramine (Hydrochloride) in Infants 1 Year to less Than 2 Years of Age with Dravet Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2022-502801-13-00·Cancelled·A Phase 2, Prospective, Interventional, Open-Label, Multisite, Extension Study to Assess the Long-Term Safety and Tolerability of Soticlestat (TAK-935) as Adjunctive Therapy in Subjects with Developmental Epileptic Encephalopathies Including Dravet Syndrome, Lennox Gastaut Syndrome, CDKL5 Deficiency Disorder, and Chromosome 15 Duplication Syndrome (ENDYMION 1)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN10870412·No longer recruiting·Exploring cannabidiol’s impact on behaviour in adults with intellectual disabilities and epilepsy (CANABID-LD)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN12811235·No longer recruiting·Longwing: An extension study for patients with Dravet syndrome, a severe form of epilepsy, who previously participated in studies of STK-001 in the United Kingdom
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN99651026·No longer recruiting·Admiral: a study of the safety of multiple increasing doses of STK-001 in children and adolescents with Dravet syndrome
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Dravet syndrome — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Dravet syndrome" OR "Severe myoclonic epilepsy of infancy" OR "Severe myoclonic epilepsy of the infancy" OR "Severe myoclonus epilepsy of infancy" OR "Severe myoclonus epilepsy of the infancy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Dravet syndrome" OR "Severe myoclonic epilepsy of infancy" OR "Severe myoclonic epilepsy of the infancy" OR "Severe myoclonus epilepsy of infancy" OR "Severe myoclonus epilepsy of the infancy"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 51 interventional · 19 observational · 8 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: SMEI
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T23:32:02.137Z