Emerging advances in Dravet syndrome

Dravet Syndrome UK‘s team participated in the 36th International Epilepsy Congress (IEC 2025) in Lisbon, joining clinicians, researchers, pharmaceutical developers and patient advocates focused on Dravet Syndrome and related epileptic encephalopathies. Several key themes emerged that signal progress towards disease-modification, more patient‑centred trials, and enhanced outcome measures beyond simple seizure counts.

Key Themes from IEC 2025

Patient Voice & Holistic Care

The Presidential Symposium, “Patient‑centred healthcare: from challenge to change,” emphasized the importance of involving patients and families in all stages of research and care. DSUK’s Chair, Galia Wilson, shared how genetic diagnosis has improved treatment access and strengthened support networks.

The Global Epilepsy Needs Study, presented for the first time, surfaced priorities such as seizure unpredictability, access to complex epilepsy services, and the need for tailored support resources.¹ The study provides the first international, patient-centred assessment of the everyday and psychosocial challenges faced by people with epilepsy, revealing five universal themes that call for more holistic, inclusive, and system-wide approaches to care, particularly in under-resourced settings.

Rethinking Clinical Trial Design

Natural history studies such as the SCN1A Horizons study are increasingly seen as essential, both to establish baseline trajectories and potentially replace traditional placebo arms, thus allowing more equitable trial participation.² SCN1A Horizons is a UK‑based natural history study following children and adults with genetically confirmed SCN1A‑related epilepsies (including Dravet syndrome) over three years to characterize longitudinal trajectories of convulsive seizure frequency, neurodevelopment, behaviour, and genotype‑phenotype correlations.

It was widely acknowledged that measuring only motor seizure frequency is insufficient. Clinicians and families alike highlighted that metrics need to encompass seizure severity, duration, non‑motor seizure types, cognition, behaviour, and quality of life.

Disease‑Modifying Treatments on the Horizon

ETX101 is being developed, and is a potential one-time, disease-modifying gene regulation therapy for SCN1A+ Dravet syndrome, targeting healthy SCN1A upregulation, has received FDA Regenerative Medicine Advanced Therapy (RMAT) designation. While not yet operative under UK regulatory pathways, its progress represents significant promise for one‑time treatment with durable impact. ETX101 has potential to address the full range of seizure, cognitive, behavioural, developmental and motor manifestations of Dravet syndrome.3

Zorevunersen, an investigational antisense oligonucleotide, has the potential to be the first disease-modifying treatment for Dravet syndrome (Stoke Therapeutics). They reported three‑year open‑label extension results, including sustained reduction of convulsive seizures, and meaningful gains in cognition and behaviour. These findings could, if confirmed in Phase 3 studies, substantially shift treatment paradigms for Dravet Syndrome.4

Implications for neurology practice

• With evolving biomarkers and genetic diagnoses becoming more accessible, neurologists must stay alert to integrating these tools into diagnostic and therapeutic decision making.
• Trial endpoints must be broader, balancing traditional seizure counts with patient‑centred measures, to align with what families report as meaningful improvements.
• The possibility of disease‑modifying therapies underscores the urgency of earlier diagnosis, genetic testing, and longer-term follow‑up in routine practice.
• As trial sites are spread across many countries (US, UK, Japan, Australia, Europe), cross‑border regulation, access and reimbursement issues will increasingly impact practice; neurologists and professional societies should engage now with policy and payer discussions to ensure accessibility of these emerging treatments.

Conclusion

IEC 2025 underscored a growing alignment between patient priorities and research imperatives in Dravet Syndrome. From gene therapy breakthroughs to expanded outcome measures, the field is moving toward treatments that do more than reduce seizures—they aim to change lives. Collaboration among neurologists, researchers, regulatory bodies, and patient organisations like Dravet Syndrome UK will be essential to translate these advances into practice.

References:

1. Global Epilepsy Needs Study Group. The Global Epilepsy Needs Study (GENS): A mixed-methods, patient-centred assessment across 15 countries. medRxiv, 2025. Available at: https://www.medrxiv.org/content/10.1101/2025.09.10.25334585v1 (accessed 15 September 2025).

2. Health Research Authority. SCN1A Horizons – A natural history study of SCN1A epilepsies in the UK. hra.nhs.uk, 2025. Available at: https://www.hra.nhs.uk/planning-and-improving-research/application-summaries/research-summaries/scn1a-horizons-a-natural-history-study-of-scn1a-epilepsies-in-the-uk/ (accessed 15 September 2025).

3. Encoded Therapeutics. Encoded Therapeutics announces Regenerative Medicine Advanced Therapy (RMAT) designation granted by U.S. FDA for ETX101 in SCN1A+ Dravet syndrome. Encoded.com, 2025. Available at: https://encoded.com/press-releases/encoded-therapeutics-announces-regenerative-medicine-advanced-therapy-rmat-designation-granted-by-u-s-fda-for-etx101-in-scn1a-dravet-syndrome/ (accessed 15 September 2025).

4. Biogen, Stoke Therapeutics. Biogen and Stoke Therapeutics announce first patient dosed in Phase 3 study of zorevunersen for Dravet syndrome. Biogen.com, 2025. Available at: https://investors.biogen.com/news-releases/news-release-details/biogen-and-stoke-therapeutics-announce-first-patient-dosed-phase (accessed 15 September 2025).<

Further content in Dravet Syndrome and Epilepsy

This content has been developed independently by Touch Medical Media for touchNEUROLOGY. Views expressed are the speaker’s own and do not necessarily reflect the views of Touch Medical Media.

Acknowledgements: Adapted from Article: IEC 2025 by Dravet Syndrome UK.

Editor: Katey Gabrysch, Editorial Director.

Disclosures: This short article was prepared by touchNEUROLOGY. The content was developed and edited by human editors. No fees or funding were associated with its publication. touchNEUROLOGY utilize AI as an editorial tool (ChatGPT (GPT-4o) [Large language model]. https://chat.openai.com/chat).

Cite: Emerging advances in Dravet syndrome. touchNEUROLOGY. 15 September 2025.

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