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New study aims to transform understanding of Dravet Syndrome and SCN1A-related epilepsies

SCN1A Horizons Natural History study recruits first patients.

The ‘SCN1A Horizons Natural History Study’ is anticipated to be a milestone in transforming understanding of SCN1A epilepsies, including Dravet Syndrome, one of the most complex and severe developmental and epileptic conditions. The nationwide study aims to define the seizure, neuro-developmental, and behavioural characteristics of SCN1A-related epilepsies in 400 children and adults over a period of three years, with the goal of improving and standardising care across the UK.

Chief Investigator, Professor Andreas Brunklaus, a Consultant Paediatric Neurologist based at the Royal Hospital for Children, University of Glasgow, announced the launch of the study at the Dravet Syndrome UK Conference in London. “The study welcomes any patients with an SCN1A mutation including children and adults, regardless of disease severity or treatment regime”, he stated. “Glasgow is the first site to launch, recruiting initial patients this week. From January 2024, recruitment will roll out UK wide, across 27 paediatric and adult clinical sites in Scotland, England, Wales & Northern Ireland”.

SCN1A-related epilepsy occurs in around 1 in 12,500 live births in the UK, with Dravet Syndrome occurring in 1 in every 15,000. Despite advances in research about Dravet Syndrome, there remain many important unanswered questions, such as the impact of anti-seizure medications, neuro-developmental and behavioural comorbidities, and mortality rates (Dravet Syndrome has a higher risk of SUDEP compared to other epilepsies). Using a prospective data collection design, the SCN1A Horizons study will inform a better understanding of the condition and potential treatment options.

Professor Brunklaus added: “Natural history studies have a successful track record, for example in improving care and understanding of neuromuscular conditions. By systematically collecting data in detail and over an extended period, we can address many of the current unknowns in Dravet Syndrome and other SCN1A epilepsies. In addition, collecting data in a standardised way creates an opportunity to raise standards of care, not just in one centre but across the UK and beyond”.

Neurodevelopmental assessments are a key part of this study, informing knowledge beyond the clinical perspective and profiling the neurocognitive development of those with Dravet Syndrome and other SCN1A-related epilepsies over time. During these assessment visits, the research assistants will also collect self-reported data from caregivers, to give a deeper insight into the impact SCN1A-related epilepsies has not only on the individual but also on the families.

“We are very excited about the potential for the SCN1A Horizons Study offers to make a real and lasting difference to those affected by Dravet Syndrome. While there are promising treatments on the horizon, these do not address all aspects of living with this devastating condition. At Dravet Syndrome UK, our strategy is to support research that addresses the continued unmet needs of families. We are delighted to be co-funding this project, and to have announced its much-anticipated launch at our Conference”.
Galia Wilson (Chair of Trustees)

SCN1A Horizons is a non-commercial study, sponsored by the NHS Greater Glasgow and Clyde and funded by a combination of commercial and charity funding. Industry partners include Biocodex, Encoded Therapeutics Inc., Jazz Pharmaceuticals Inc., Stoke Therapeutics Inc. & UCB Inc. The project is also supported by grant funding from Dravet Syndrome UK and Dravet Syndrome Foundation.

For more information about the SCN1A Horizons Natural History Study, including information about participating centres, please contact the study team on [email protected].

For more information about Dravet Syndrome, including the opportunity to watch Professor Brunklaus’ presentation at the Dravet Syndrome UK conference, click here.