Clinical trials: Dravet Syndrome
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
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
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Dravet Syndrome
Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome
This study addresses the changes in the axonal excitability parameters. It will compare these changes in patients with early infantile epileptic encephalopathy with HCN1 channel mutation and in control patients, with and without…
- Trial name
- EXCIDRAH (NCT02896608)
- Testing
- measure of neuronal excitability
- Where
- France
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild