RecruitingNCT06504511

SCN1A Horizons A Natural History Study of SCN1A-related Epilepsies in the United Kingdom

Sponsor

NHS Greater Glasgow and Clyde

Enrollment

400 participants

Start Date

Nov 20, 2023

Study Type

OBSERVATIONAL

Conditions

Epilepsy Dravet Syndrome SCN1A

Summary

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

Inclusion Criteria3

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.

Exclusion Criteria1

Patient has any other significant disease or disorder which, in the opinion of the Investigator, may either put the patient at risk because of participation in the study, or may affect the patient's ability to participate in the study.

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Locations(1)

Royal Hospital for Children

Glasgow, United Kingdom

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NCT06504511

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