Research Update: Counting CASK Global Census

We are excited to share a significant milestone in our Counting CASK: The Global Census programme. In partnership with RARE-X, we have now identified and registered over 300 individuals with a confirmed CASK diagnosis across 28 countries.

Why This Matters

Understanding how many people are affected by CASK disorders — and where they are in the world — is fundamental to designing effective research programmes and securing the institutional support needed to run clinical trials.

Before this programme, the true prevalence of CASK disorders was unknown. Many families had gone years without connecting with another family in their country, let alone the wider global community.

What We've Learned

The census data is already revealing important insights:

• CASK disorders affect people on every inhabited continent
• The age of diagnosis varies enormously by country, reflecting differences in healthcare access and genetic testing availability
• Many families report significant delays between first symptoms and genetic diagnosis

Get Involved

If you or your child has a confirmed CASK diagnosis and you have not yet registered, please join the census here. Every registration strengthens our collective voice and helps researchers understand the true scale and nature of CASK disorders.