The CTNNB1 Patient Registry and Natural History Study are essential to the future of research and finding effective treatments. We aim to compile patient records and data to help medical researchers understand how our children are affected by CTNNB1 syndrome, now and over time.

As of 22 February 2023, here’s the progress we’ve made so far:

  • Registered Families: 238
  • Consented Families: 189
  • Approved Lab Reports: 151
  • Completed Medical History Interview: 86
  • Blood Samples from CTNNB1 Variants: 22

Simons Searchlight Partnership

Simons Searchlight is a partnership of leading scientists, researchers, and families dedicated to advancing the science of genetic changes related to autism. Their team is studying genes that have been associated with autism and neurodevelopmental disorders. CTNNB1 is one of the many genes that is being studied by Simons Searchlight. 

The conditions Simons Searchlight studies can be extremely rare but through a collaborative process advances can be made. We are working with Simons Searchlight on both the Registry and Natural History Study. 

Enroll in the Study

If you have a child diagnosed with CTNNB1 syndrome it is important that you enroll. Your participation is essential to the future development of treatment, including the ability to run clinical trials. There are a few simple steps to follow. 

  • Visit the Simons Searchlight website and create an account. 
  • Upload your child’s genetic report. 
  • Complete a call with a genetic counselor to discuss your child’s medical history and development. 
  • Check your dashboard periodically for any new tasks.


Families can email the Simons Searchlight Coordinator with any questions on how to enroll.