Research Activities

Since 2021, the CTNNB1 Foundation has funded numerous research projects totaling over 1,500,000€. Collaborating closely with our medical and scientific advisors, we aim to build on successful studies and support new research to improve the lives of affected patients.

We are also bringing together a larger group of researchers, neurologists, virologists, and other professionals at many meetings, including our 1st International CTNNB1 Syndrome Conference, which was held in March 23-24 in Madrid, Spain, and our 2nd International CTNNB1 Syndrome Conference, which was held in June 14-15 in Ljubljana, Slovenia.

This will allow us to share research findings and work together to determine the path forward for CTNNB1 research. Through these efforts, the CTNNB1 Foundation hopes to help unravel the molecular mechanisms of CTNNB1 syndrome and develop strategies for effective medicines.

To actively advance research toward our goals, CTNNB1 and its advisory boards are following a roadmap to explore and determine which studies should be funded and explored.

Our roadmap includes basic studies and studies focused on finding best treatment solutions. Basic studies include genotype-phenotype correlation study and biochemical characterization of mutations. It includes cell and animal model development and phenotyping. What we have observed from published data and our own data is that there is a lot of diversity in symptom severity.

Our goal is to find solutions for all children. Therefore, we are exploring all currently available technologies based on the gene therapy approach. The most advanced approach is gene replacement therapy, which is currently in the manufacturing process and tested for safety.

In addition, several RNA and DNA-based technologies are being tested for a proof-of-concept. The CTNNB1 Foundation considers these goals equally important and carefully addresses each goal when allocating research funds. Together, we strive for better treatments and a cure.