When it comes to fulfilling our mission, CTNNB1 Connect & Cure is well on its way. The incredible generosity of our donors has enabled us to fund innovative and much-needed research that offers hope to those looking for treatments and a cure for CTNNB1 Syndrome. At the same time, we’ve seen the power of bringing people together—families, doctors, researchers, and more—to focus on a common goal and support each other along the way.
At a Glance
Approximately 500 children and adults diagnosed worldwide
5 continents represented in the CTNNB1 community
Multiple promising therapeutics being rigorously pursued
290 families participating in research
Over $1M raised by generous donors
More than $850,000 invested in research
Creating the Path to a Cure
Receiving a CTNNB1 Syndrome diagnosis shouldn’t be the end of the road. By funding groundbreaking medical research on this rare disease, we can help children and adults live their lives more fully with better treatments and, one day, a cure. To date, we’ve made significant progress, moving from a foundational Patient Registry and Natural History Study to drug trials in mouse models.
Established the Patient Registry and Natural History Study
Created a mouse model and bred a colony of CTNNB1 Syndrome mice
Identifying and testing drug treatments for safety and effectiveness