SCN1A Horizons A Natural History Study of SCN1A-related Epilepsies in the United Kingdom
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorNHS Greater Glasgow and Clyde
About this trial
The aims of this prospective natural history study are to define the seizure, neuro-developmental, and behavioural characteristics of SCN1A-related epilepsies/Dravet 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.
Eligibility criteria
Qualifiers
Patient and/or legally authorised representative must be willing and able to give informed consent/assent for participation in the study.
Patient and parent/caregiver are willing and able (in the Investigator's opinion) to comply with all study requirements (including ability and willingness to comply with virtual visits).
Participant has a confirmed pathogenic (class 5) or likely pathogenic (class 4. SCN1A variant, as demonstrated by genetic testing.
Disqualifiers
None
Trial design
Treatments tested in this trial
- Not listed
Trial groups
No trial groups listed
Sponsors and collaborators
Source ClinicalTrials.gov