Clinical trials: Epileptic Encephalopathy
Dravet Syndrome
A Clinical Study to Evaluate the Safety and Efficacy of ETX101, an AAV9-Delivered Gene Therapy in Children With SCN1A-positive Dravet Syndrome (Australia Only)
WAYFINDER is a Phase 1/2 study in Australia to evaluate the safety and efficacy of ETX101 in participants with SCN1A-positive Dravet syndrome aged 6 to <84 months. The study follows an open-label, dose-escalation design.
- Trial name
- NCT06112275
- Testing
- ETX101
- Where
- Australia
- Volunteers
- 4 people
- Sponsor
- Encoded Therapeutics
Dravet Syndrome
An Open-Label Study to Investigate the Safety of Single and Multiple Ascending Doses in Children and Adolescents With Dravet Syndrome
Stoke Therapeutics is evaluating the safety and tolerability of single and multiple ascending doses of STK-001 in patients with Dravet syndrome.
- Trial name
- NCT04442295
- Testing
- STK-001 - Single Ascending Doses, STK-001 - Multiple Ascending Doses
- Where
- 18 sites in United States
- Volunteers
- 62 people
- Sponsor
- Stoke Therapeutics, Inc
Epilepsy, Dravet Syndrome (DS)
A Study of Soticlestat in Adults and Children With Rare Epilepsies
The main aim is to assess the long-term safety and tolerability of soticlestat when used along with other anti-seizure treatment. Participants will receive soticlestat twice a day.
- Conditions
- Epilepsy, Dravet Syndrome (DS), Lennox-Gastaut Syndrome (LGS)
- Trial name
- Endymion 1 (NCT03635073)
- Testing
- Soticlestat
- Where
- 59 sites in United States, Australia and 6 more
- Volunteers
- 156 people
- Sponsor
- Takeda
Refractory Epilepsy, SYNGAP1 Encephalopathy
Fenfluramine for the Treatment of Different Types of Developmental and Epileptic Encephalopathies: a Pilot Trial Exploring Epileptic and Non-epileptic Outcomes
This study is a pilot non-controlled clinical trial with adjunctive fenfluramine for the treatment of five different types of developmental and epileptic encephalopathies (DEEs) focused on epileptic and "non-epileptic outcomes"…
- Conditions
- Refractory Epilepsy, SYNGAP1 Encephalopathy, STXBP1 Encephalopathy With Epilepsy, Inv Dup(15) Encephalopathy
- Trial name
- FENDEEP (NCT05232630)
- Testing
- Fenfluramine
- Where
- Spain
- Volunteers
- 20 people
- Sponsor
- Hospital Ruber Internacional
Familial Dementia With Neuroserpin Inclusion Bodies, Nervous System Heredodegenerative Disorder
Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies
The purpose of this study is to learn more about the medical problems and the genetic factors involved in a recently defined form of inherited dementia called "familial dementia with neuroserpin inclusion bodies (FDNIB)."…
- Trial name
- NCT00006176
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Epileptic Encephalopathy
Prospective Cohort Study on the Efficacy of Vagus Nerve Stimulation for Children and Adolescents With Epilepsy(PVNS-CAE)
Prospective cohort study on the long-term effectiveness and safety of PINS vagus nerve stimulators for children and adolescent with refractory epilepsy.
- Trial name
- NCT02603991
- Testing
- PINS Vagus Nerve Stimulator, Levetiracetam
- Where
- China
- Volunteers
- 1 people
- Sponsor
- Beijing Pins Medical Co., Ltd
Epileptic Encephalopathy
Creation of a Register of Patients With Neonatal-onset Epileptic Encephalopathy
Electrical activity emerges in the third trimester of pregnancy, plays an important role in the construction of cortical maps, and is impaired in patients with severe early epileptic encephalopathies (EOEE).
- Trial name
- IMPROVE (NCT04802135)
- Testing
- Survey
- Where
- 15 sites in France
- Volunteers
- 200 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Status Epilepticus, Dysimmune Encephalopathy
Study of Pathophysiology of Status Epilepticus and Dysimmune Encephalitis
COLETTE is an interventional study for which blood, cerebrospinal fluid and post-mortem tissues are collected in patients with status epilepticus or epilepsy associated to dysimmune encephalitis as well as in control patients, to…
- Trial name
- COLETTE (NCT04421846)
- Testing
- Blood sampling, cerebrospinal fluid , post-mortem cerebral tissues (NA for the Group 3), Blood sampling, cerebrospinal fluid, stool sampling post-mortem cerebral tissues (NA for the Group 3)
- Where
- France
- Volunteers
- 400 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Electrical Status Epilepticus in Sleep
Study of Patients with Electrical Status Epilepticus in Sleep
Our aims are: 1. To understand the diagnostic practices, treatment and long term management and outcomes for patients diagnosed with ESES locally. 2.
- Trial name
- SPESES (NCT06792396)
- Where
- United Kingdom
- Volunteers
- 20 people
- Sponsor
- East Suffolk and North Essex NHS Foundation Trust
STXBP1 Encephalopathy with Epilepsy
Natural History Study in Pediatric Patients with STXBP1 Encephalopathy with Epilepsy
This is a prospective, non-interventional, longitudinal study designed to characterize the natural history of STXBP1 related encephalopathy with epilepsy, in participants ≤ <5 years of age.
- Trial name
- NCT05462054
- Sponsor
- Capsida Biotherapeutics, Inc.
GNAO1, Epilepsy
Tianasen (ASO-GNAO1) for GNAO1-Encephalopathy With Epilepsy and Movement Disorders.
The goal of this clinical trial is to evaluate the efficacy and safety of the investigational drug ASO-GNAO1 (Tianasen) in pediatric patients with c.607G>A mutation in the GNAO1 gene associated with epilepsy and…
- Conditions
- GNAO1, Epilepsy, Hyperkinesis
- Trial name
- ASO-GNAO1 (NCT07363603)
- Testing
- Antisense oligonucleotide treatment (ASO)
- Where
- Russia
- Volunteers
- 5 people
- Sponsor
- Pirogov Russian National Research Medical University
KCNQ2-related Epilepsy
Clinical Phenotype and Omics Study of KCNQ2-related Epilepsy
The aims of study on KCNQ2-related epilepsy: (1) establish phenotype database and sample database of KCNQ2-related epilepsy; (2) to establish genotype-phenotype association of KCNQ2-related epilepsy; (3) to study the brain…
- Trial name
- NCT05157737
- Testing
- Electrophysiological detection of KCNQ2 mutation, Multi-modal brain image and EEG, Omics testing
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Fudan University
Epileptic Encephalopathy of Unindentified Genetic Origin
Evaluation of the Diagnostic Contribution of High-throughput Exome Sequencing for Patients With Convulsive Encephalopathy of Unknown Etiology: Pilot Study to Improve Genetic Counselling
Congenital epileptic encephalopathies (EE) are predominantly genetic in origin. Their diagnosis is hampered by the large number of genes involved and their low recurrence.
- Trial name
- SHD-EE (NCT03652246)
- Where
- France
- Volunteers
- 15 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Developmental and Epileptic Encephalopathy
A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathies (DEE)
This (DEEp OCEAN 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 DEE.
- Trial name
- NCT06719141
- Testing
- LP352
- Where
- 116 sites in United States, Australia and 15 more
- Volunteers
- 367 people
- Sponsor
- Longboard Pharmaceuticals
Dravet Syndrome (DS)
A Study to Evaluate the Safety and Pharmacokinetics of RC001 in Children With Dravet Syndrome
This is an open-label, single-center study to evaluate the safety, tolerability, pharmacokinetics, and preliminary efficacy of intrathecal RC001 in patients with Dravet syndrome aged 2 to 18 years.
- Trial name
- NCT07675746
- Testing
- RC001 injection-Dose Escalation Cohort, RC001 injection-Fixed Dose Cohort
- Where
- China
- Volunteers
- 8 people
- Sponsor
- Second Affiliated Hospital of Guangzhou Medical University
16P11.2 Deletion Syndrome, 16p11.2 Duplications
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism.
- Conditions
- 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder)
- Trial name
- NCT01238250
- Where
- 2 sites in United States
- Volunteers
- 100,000 people
- Sponsor
- Simons Searchlight
Inherited Mitochondrial Disease, Including Leigh Syndrome
Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease
To evaluate safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) administered at a target maintenance dose of 1.3 g/m²/day in two divided doses, every 12 hours, for up to 6 months in…
- Trial name
- MITO-001 (NCT02023866)
- Testing
- Cysteamine Bitartrate
- Where
- 5 sites in United States
- Volunteers
- 36 people
- Sponsor
- Amgen
Focal Epilepsy, Generalized Onset Epilepsy
Study of Transcranial Direct Current Stimulation to Treat Epilepsy
The purpose of this research is to see to what extent electrical stimulation applied to the scalp (transcranial direct current stimulation or tDCS) can reduce the number and intensity of epileptic seizures.
- Conditions
- Focal Epilepsy, Generalized Onset Epilepsy, Sleep-related Epileptic Encephalopathy
- Trial name
- NCT05673915
- Testing
- ActivaDose II 0.1 mA transcranial direct current stimulation (tDCS), ActivaDose II 2.0 mA transcranial direct current stimulation (tDCS)
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Mayo Clinic
Dravet Syndrome, Epileptic Encephalopathies Associated With SCN1A Mutations
Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies
This is an expanded access use of Stiripentol in Dravet Syndrome or epileptic encephalopathies associated with sodium channel mutations who have failed other drugs in an effort to give them the best chance at seizure control and…
- Trial name
- NCT02239276
- Testing
- Stiripentol
- Where
- United States
- Sponsor
- Cook Children's Health Care System
AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines.
- Conditions
- AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of
- Trial name
- NCT06092346
- Where
- United States
- Volunteers
- 999 people
- Sponsor
- National Human Genome Research Institute (NHGRI)