We are running a research project looking at speech and language abilities in individuals with variants in the CACNA1C gene. By improving our understanding of speech and language profiles in CACNA1C-Related Disorders, we hope to improve prognosis, better identify those in need of support and develop more targeted strategies.
Eligibility
- Aged 6 months to adulthood.
- With a CACNA1C variant confirmed by genetic test (can be a VUS).
- All communication abilities (speaking or non-speaking).
What’s involved
- Surveys about speech, language and health.
Surveys are available in English, French, Dutch, German, Spanish, Portuguese, Italian, Polish and Chinese - Online or in-person meeting with a speech pathologist, including a speech assessment where possible.
If you are interested in participating or have questions, please email the study team at geneticsofspeech@mcri.edu.au
Make A Difference – Make a Donation
We are not funded by the government and rely completely on the generosity of our supporters to fund our work.
Your donations will help to make the CACNA1C Community Registry sustainable for the future. Help us save and improve the lives of families and loved ones by making a donation today.
All donations via our GlobalGiving project page are tax-deductible for US donors and UK donors can claim Gift Aid (which means the registry project will receive an additional 25% on top of the original GBP donation).
See other ways that you can support us.