Research into SCN2A moves at the speed of the data families contribute. Below are the ways you can take part, from a few minutes adding your family to the registry, through to ongoing advisory roles shaping what gets studied and how.
The SCN2A Insights Registry.
The SCN2A Insights Registry collects de-identified information from families with SCN2A variants to build a picture of the condition, how it presents, how it progresses, and what helps. This data directly informs research directions and clinical-trial design.
Joining does not commit you to anything else. Your information is used for research purposes only, and by taking part you become part of a global community contributing to a future where better treatments are possible.
Natural-history studies.
Natural-history studies follow how SCN2A-related conditions change over time. They are foundational, regulators and trial sponsors rely on them to understand what a meaningful treatment effect looks like, and to design trials with endpoints that matter to families.
SCN2A Australia helped co-design an Australian DEE natural-history study with a family-prioritised endpoint set, in field across multiple sites with Luminesce Alliance. Families who join the registry can be told when studies like this are recruiting.
Families where PURA syndrome is part of the diagnosis can also take part in the DEER Study (Developmental and Epileptic Encephalopathy Research), led by Professor Ingrid Scheffer at the University of Melbourne's Epilepsy Research Centre.
Studies and surveys open now.
A study on a health questionnaire for children with disability.
National Autism Parent/Carer Survey.
Where to look for recruiting studies.
Talk to your neurologist first. Eligibility for any study depends on your child's variant type, age, and history, your treating team can help you assess whether a study is appropriate.
Useful study-finding resources
- ClinicalTrials.govSearch "SCN2A" or "DEE" for all registered trials and observational studiesclinicaltrials.gov
- Australian New Zealand Clinical Trials RegistryANZCTR lists trials and studies recruiting in Australiawww.anzctr.org.au
- Simons SearchlightInternational natural-history research for SCN2A and related genetic conditionswww.simonssearchlight.org
Family advisory & co-design.
Some of the most valuable research contributions are not clinical at all. Families bring expertise that researchers cannot get anywhere else, what outcomes actually matter, what daily life involves, and what would make a study workable for families.
SCN2A Australia connects families to advisory and co-design opportunities, including priority-setting work, family advisory panels, and consumer review of study designs. These roles help ensure research is asking the right questions in the first place.
Broader rare-disease advisory avenues are open too, including Rare Power at Rare Diseases NSW, a consumer engagement program for people with lived experience of a rare condition to help shape research and care.