SCN1A Horizons: A natural history study of SCN1A epilepsies in the UK
Research type
Research Study
Full title
SCN1A Horizons: A natural history study of SCN1A-related epilepsies in the United Kingdom
IRAS ID
295069
Contact name
Andreas Brunklaus
Contact email
Sponsor organisation
NHS Greater Glasgow and Clyde
Duration of Study in the UK
3 years, 11 months, 31 days
Research summary
The SCN1A Horizons natural history study is being conducted to define the seizure, neurodevelopmental, and behavioural characteristics of SCN1A-related epilepsy/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.
Studies like the SCN1A Horizons study are important for medical advances. Current treatments for diseases are only available because of research study volunteers. In order to evaluate established and novel treatments, including new medications and disease modifying therapy, it is important to not only document seizure frequency but also behaviour, learning and motor function. This study is being done to understand as much as we can about the trajectory of children living with SCN1A-related epilepsy/Dravet syndrome and the impact the genotype has on the epilepsy and the neurodevelopmental outcomes.
Approximately 400 children (80%) and adults (20%) and their caregivers will participate in this study at approximately 25 sites in the United Kingdom.
Participants will be aged from 6 months to adulthood and will have a genetically confirmed diagnosis of SCN1A-positive epilepsy/Dravet syndrome.
Following a screening/baseline visit subjects will enter an Observation Period of 3 years.The participants are expected to undergo the following assessments:
Site and Clinician Assessments will include informed consent, participant eligibility, demographics and medical history, assessment of epilepsy characteristics and medication, physical examination, clinical laboratory tests (DNA sample), Bayley Scales of Infant and Toddler Development® 3rd Edition (BSID-III), Wechsler Preschool & Primary Scale of Intelligence™ 4th Edition (WPPSI-IV) and Autism Diagnostic Observation Schedule (ADOS).Parent/Caregiver Reported assessments will include a seizure diary, at-home video documentation of seizures (optional), and a series of parent/caregiver reported assessments on neurocognitive and motor development as well as health related quality of life and healthcare utilisation.
REC name
Wales REC 2
REC reference
22/WA/0117
Date of REC Opinion
15 Jun 2022
REC opinion
Further Information Favourable Opinion