Rare Disease Day 2025

Rare Disease Day 2025 campaign theme: Get Ready, Stay Hopeful. The message reflects significant progress — we move closer to clinical trials for CASK gene disorders.

A central focus: encouraging community members to register with the global CASK registry on RARE-X. Without data on our community it will be difficult to obtain approval for clinical trials. Registration allows researchers to gather longitudinal data showing disease progression — crucial for comparing therapeutic improvements in trials.

Encouraging developments: two gene therapies are currently in development, with one progressing through preclinical animal studies. Additionally, a scientist has patented drugs showing effectiveness against cerebellar degeneration in MICPCH and is seeking pharmaceutical partnerships.

For Rare Disease Day celebrations we encourage fundraising and awareness efforts supporting Genetic Alliance — every penny you raise will help them support everyone affected by a genetic, rare and undiagnosed condition.