Clinical trials: CDKL5, open to volunteers
CDKL5, CDKL5 Deficiency Disorder
International CDKL5 Clinical Research Network
Pathogenic variants in the Cyclin-dependent kinase like 5 (CDKL5) gene cause CDKL5 deficiency disorder (CDD, MIM 300672, 105830), a severe developmental and epileptic encephalopathy associated with cognitive and motor impairments…
- Conditions
- CDKL5, CDKL5 Deficiency Disorder, CDD
- Trial name
- ICCRN (NCT05558371)
- Testing
- No intervention.
- Where
- 9 sites in United States, Australia
- Volunteers
- 1,000 people
- Sponsor
- University of Colorado, Denver
Epilepsy, West Syndrome
Multicentre Real-life Follow-up Study of Rare Epileptic Syndromes in Children and Adolescents
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…
- Conditions
- Epilepsy, West Syndrome, Dravet Syndrome
- Trial name
- EPIRARE (NCT05126914)
- Where
- 11 sites in France
- Volunteers
- 1,000 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
CDKL5 Deficiency Disorder
Double-blind, Randomized, Placebo-controlled Trial of Ganaxolone in CDKL5 Deficiency Patients 6 Months to Less Than 2 Years Old
This study will assess the efficacy, safety, and tolerability of ganaxolone (GNX) compared with placebo (PBO) as adjunctive therapy to the participant's standard anti-epileptic medication for the treatment of seizures in…
- Trial name
- NCT05249556
- Testing
- Ganaxolone
- Volunteers
- 20 people
- Sponsor
- Immedica Pharma AB
Dravet Syndrome (DS), Lennox-Gastaut Syndrome (LGS)
A Study to Investigate the Transition of Children From 'Artisanal" Cannabidiol (CBD) to Epidiolex
The goal of this clinical trial is to learn the best way to switch children with Lennox-Gastaut Syndrome (LGS) or Dravet Syndrome (DS) taking 'artisanal' (non pharmaceutical-grade) cannabidiol (CBD) to Epidiolex for treatment of…
- Trial name
- CANN-SWITCH (NCT06924827)
- Testing
- Epidiolex 100 mg/mL Oral Solution
- Where
- Canada
- Volunteers
- 25 people
- Sponsor
- Elizabeth Donner
Dravet Syndrome
ASCEND: Safety and Tolerability of ION337 for the Treatment of Dravet Syndrome
The primary purpose of this study is to evaluate the safety and tolerability of ION337 in participants with Dravet syndrome (DS).
- Trial name
- NCT07531745
- Testing
- ION337
- Where
- 6 sites in United States, Canada
- Volunteers
- 32 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Dravet Syndrome (DS), Lennox Gastaut Syndrome (LGS)
Clinical Utility of Reduced EEG Home Monitoring in Fenfluramine Titration for Dravet and LGS
The goal of this real world data study is to evaluate the clinical utility of remote patient monitoring solution (using Byteflies' EpiCare@Home with reduced EEG montage and other vital signs) with Dravet and LGS patients (ages 3…
- Trial name
- TETRIS (NCT07225231)
- Testing
- Byteflies Remote patient monitoring solution (with reduced EEG)
- Where
- 3 sites in United States
- Volunteers
- 20 people
- Sponsor
- Byteflies
Dravet Syndrome
A Clinical Study to Evaluate the Safety and Efficacy of ETX101 in Infants and Children With SCN1A-Positive Dravet Syndrome
ENDEAVOR is a Phase 1/2, 2-part, multicenter study to evaluate the safety and efficacy of ETX101 in participants with SCN1A-positive Dravet syndrome aged ≥6 to <36 months (Part 1A), aged ≥48 months to <18 years (Part 1B), and…
- Trial name
- ENDEAVOR (NCT05419492)
- Testing
- ETX101
- Where
- 14 sites in United States, Australia and 1 more
- Volunteers
- 113 people
- Sponsor
- Encoded Therapeutics
Dravet Syndrome (DS)
Biomarkers of Neurodegeneration, Synaptic Plasticity and Neuroinflammation in Dravet Syndrome
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…
- Trial name
- TEMBO-DS (NCT07801404)
- Where
- 9 sites in Italy
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Epilepsy-Dyskinesia, Epilepsy
Registry and Natural History of Epilepsy-Dyskinesia Syndromes
The Registry and Natural History of Epilepsy-Dyskinesia Syndromes is focused on gathering longitudinal clinical data as well as biological samples (blood, urine, and/or skin/tissue) from male and female patients, of all ages, who…
- Conditions
- Epilepsy-Dyskinesia, Epilepsy, Dyskinesia, EDS
- Trial name
- NCT06967727
- Where
- United States
- Volunteers
- 700 people
- Sponsor
- Boston Children's Hospital
Lennox-Gastaut Syndrome (LGS), Dravet Syndrome (DS)
CBD Delivery with the A-Synaptic GT4 Transdermal Delivery System in with Dravet Syndrome And/or Lennox-Gastaut Syndrome
This study is a preliminary open-label, single-arm Phase II investigation into the safety and efficacy of transdermal cannabidiol (CBD) delivered using GT4 skin bream technology in individuals diagnosed with Dravet and/or…
- Trial name
- NCT06738732
- Testing
- CBD: GT4 Transdermal Delivery System
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Alexander Rotenberg
Dravet Syndrome
GABA Biomarkers in Dravet Syndrome
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…
- Trial name
- NCT05651204
- Testing
- GABA Blood Level
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Cook Children's Health Care System
Epilepsy, Dravet Syndrome
A PET-MRI Study of Serotoninergic Brainstem Pathway in Patients With Dravet Syndrome
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.
- Conditions
- Epilepsy, Dravet Syndrome, Drug Resistant Epilepsy, Healthy Controls
- Trial name
- DRAPETONINE (NCT07013331)
- Testing
- [18F]MPPF PET-MRI
- Where
- France
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Dravet Syndrome
A Study of EPX-100 (Clemizole Hydrochloride) in Participants With Dravet Syndrome
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…
- Trial name
- ARGUS (NCT04462770)
- Testing
- Clemizole HCl
- Where
- 86 sites in United States, Argentina and 9 more
- Volunteers
- 150 people
- Sponsor
- Epygenix
Dravet Syndrome
The FINTEPLA as an Anti-SUDEP Therapy in Dravet Syndrome Project
This study investigates cerebrovascular reactivity (CVR) and functional brain connectivity in Dravet Syndrome (DS) patients with convulsive seizures.
- Trial name
- FAST-DS (NCT07112365)
- Testing
- Fenfluramine treatment (Fintepla), Hypercapnia Challenge using the device (RespirAct)
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- The University of Texas Health Science Center, Houston
Absence Epilepsy, Jeavons Syndrome
BMB-101 in Absence Epilepsy and DEE
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)…
- Conditions
- Absence Epilepsy, Jeavons Syndrome, Dravet Syndrome, Lennox Gastaut Syndrome
- Trial name
- NCT06401538
- Testing
- BMB-101
- Where
- 5 sites in Australia
- Volunteers
- 20 people
- Sponsor
- Bright Minds Biosciences Pty Ltd
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
CDKL5 Deficiency Disorder
Efficacy and Safety of Daily Home-based Hyperthermic Baths for Reducing Epileptic Seizures in CDKL5 Deficiency Disorder: A PROBE Clinical Trial
The primary objective of this research is to study the efficacy and safety of daily, home-based hyperthermic baths for reducing epileptic seizures in CDKL5 Deficiency Disorder.
- Trial name
- NCT07602205
- Testing
- Home-based hyperthermic Baths
- Volunteers
- 34 people
- Sponsor
- Xuanwu Hospital, Beijing
Epilepsy in Children, Dyskinesias
A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes
The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, monogenic diseases that cause both movement disorders and epilepsy.
- Conditions
- Epilepsy in Children, Dyskinesias, Movement Disorders in Children, Neurologic Disorder
- Trial name
- NCT06585605
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Boston Children's Hospital
Dravet Syndrome
Longitudinal Study of Phenotypic and Developmental Severity in Patients With Dravet Syndrome With SCN1A Gene Mutation
Dravet syndrome with SCN1A gene mutation is a developmental and epileptic encephalopathy characterized by treatment-resistant epilepsy and global developmental delay.
- Trial name
- LONG-DS (NCT07251673)
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Developmental and Epileptic Encephalopathy
A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathy (DEE)
This (DEEp OLE Study) is a multicentre, open-label study to investigate the long-term safety, efficacy, tolerability, and pharmacokinetics (PK) of LP352 in the treatment of seizures in children and adults with DEE who completed…
- Trial name
- NCT06908226
- Testing
- LP352
- Where
- 88 sites in United States, Australia and 15 more
- Volunteers
- 324 people
- Sponsor
- Longboard Pharmaceuticals