CTNNB1 Connect and Cure has partnered with teams of leaders in the field to better understand CTNNB1 Syndrome and to find treatments. We have established patient registries, natural history studies, and biorepositories. Data is collected in multiple ways, including surveys, clinical assessments, and review of past medical records. Your participation is essential for developing better care guidelines and progressing the development of treatments, including the ability to run clinical trials. This table provides information about current research opportunities.
We encourage all CTNNB1 patients to participate in the following studies:
- Online surveys
- Clinical phone interview
- Optional blood sample collection
- In-person assessments
- Optional blood sample collection
To join, please contact Lauren Cochran at lauren@curectnnb1.org.
- One-time sign up to allow access to existing medical records
- Biosample collection
To join, please contact Emily Amerson at emily@curectnnb1.org.
- Clinical phone interviews
- Online questionnaires
- Photos
- Virtual assessments
- Blood sample collection
To join, please contact the study coordinator, Conor Miles at conormgm@uw.edu or 206-685-8770.
- Online questionnaires
- Interviews
- Participants receive up to $100 for sharing data
What is a Patient Registry?
A patient registry is an organized system for collecting, storing, and disseminating information about people who have a disease. Some patient registries can be used for natural history studies and are often used to recruit patients for clinical trials.
What is a Natural History Study?
A natural history study looks at how a disease changes over time in a patient population.
What is a Biorepository?
A biorepository is a collection of biosamples, which are important tools for researchers to advance CTNNB1 research. There are several opportunities for those diagnosed with CTNNB1 Syndrome, siblings, and biological parents to give blood samples throughout the year. We can also store bio waste from surgical procedures. Please email emily@curectnnb1.org to learn more.