Advancing Therapeutic Development in SCN2A and SCN8A -Related Disorders: A Multi-Stakeholder, Patient-Centric Roadmapping and Strategy Workshop

SCN2A and SCN8A-related disorders cause severe neurodevelopmental conditions with limited treatment options, including infantile seizures, epilepsy, autism spectrum disorder, intellectual disability, and developmental epileptic encephalopathy.The FamilieSCN2A Foundation and International SCN8A Alliance aim to accelerate therapeutic progress for these disorders.A multi-stakeholder workshop at the 2025 FamilieSCN2A Foundation Annual Conference brought together scientists, clinicians, industry partners, and caregivers to explore therapeutic strategies through a roadmapping workshop.Caregiver input shaped priorities around treatment burden, symptom domains, and trial design.Key recommendations included: (1) validating non-seizure outcome measures and biomarker correlation; (2) launching long-read sequencing to define targets for allele-specific therapies; (3) building decentralized, caregiver-informed trial designs; and (4) early FDA engagement on novel chemistries and mixed-function variants.The workshop highlighted accelerating momentum alongside persistent challenges.Participants identified allele-specific antisense oligonucleotides, gene editing platforms, and targeted small molecules as most promising, while emphasizing that progress requires improved variant stratification, human-relevant preclinical models, and validated non-seizure outcome measures.