What is a natural history study?

In order to improve care and develop treatments specific for CTNNB1 Syndrome, a better understanding of the disorder is needed. One of the best ways to do so is through natural history studies, which analyze a disease over time. This can be accomplished in many different ways including surveys or reviewing past medical records. We are proud to partner with two platforms currently studying CTNNB1 Syndrome: Ciitizen (Invitae) and Simons Searchlight. If you have a child diagnosed with CTNNB1 syndrome it is important that you enroll in both. Your participation is essential to the future development of treatment, including the ability to run clinical trials.

Ciitizen (Invitae)

Invitae’s Rare Patient Network on the Ciitizen platform builds a strong natural history study from patients’ already existing medical records. The data is de-identified for your privacy and protection and, with your consent, organized to share with researchers and pharmaceutical companies. This opportunity provides families the option to gather their medical records all in one spot. It also taps into years worth of data in a fraction of the time, allowing us to quicken understanding and access to treatments.

1. Create an account at https://www.ciitizen.com/rarenetwork/CTNNB1Connect.
2. Verify your identity by uploading your child’s birth certificate and your driver’s license.
3. Verify the diagnosis by uploading your child’s genetic report or select the name of the lab that did the work.
4. Add the names of institutions and providers visited to obtain records from.

Simons Searchlight

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. 

How to register:
1. Visit the Simons Searchlight website and create an account. 
2. Upload your child’s genetic report. 
3. Complete a brief call with a genetic counselor to discuss your child’s medical history and development. 
4. Provide a blood sample if you are interested.
*Check your dashboard periodically for any new tasks.

Families can email the Simons Searchlight Coordinator with any questions.

As of May 2023, here’s the progress we’ve made so far:
Registered: 221
-Approved Lab Reports: 172
-Completed Medical History Interviews: 105
-Blood Samples from CTNNB1 Variants: 23