Do you have a Tethered Spinal Cord release surgery coming up?
Please email research@curectnnb1.org to learn more about sending the bio waste from the surgery to our CTNNB1 Biorepository for research.
CTNNB1 Connect and Cure has partnered with teams of leaders in the field to better understand CTNNB1 Syndrome and develop treatments. Your participation drives progress for our entire patient population.
STEP 1
Get started with the form below to join our CTNNB1 patient registry, with options to use AI Advocate to help you navigate your loved one’s medical journey and to share your data for research purposes.
STEP 2
Create a Clinical Research ID (CRID) for the CTNNB1 patient by visiting https://thecrid.org or clicking the button below. This keeps your data secure and allows for de-identified linking across studies.
STEP 3
Join Simons Searchlight by visiting https://research.simonssearchlight.org or clicking the button below. This study is the longest-running and largest study of CTNNB1 patients, which serves as the foundation of our prospective Natural History Study. It includes online surveys and an optional blood sample collection. Please make sure to enter the patient’s CRID in “Account Settings.”
STEP 4
Browse the studies currently open for CTNNB1 families, then submit the CTNNB1 Studies Interest Form or email research@curectnnb1.org to indicate which studies you are interested in learning more about or enrolling in.
In-Person Natural History Study
in collaboration with
What does it involve?
- In-person motor and cognitive assessments
- In-person research EEGs
Biorespository and EEG Bank
What does it involve?
Biorepository: Collection of various biosamples to be used to identify biomarkers and test treatments being developed
EEG Bank: Upload existing EEG reports to study brain patterns of CTNNB1 patients
Both: Online surveys
Speech Study
What does it involve?
- In-person speech/language, fine motor and/or cognition assessments
- Caregiver questionnaire(s)
STRIPES Study
What does it involve?
- Online surveys to better understand the needs and priorities of individuals and families affected by genetic conditions
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 is a type of research that follows people with a particular condition over time to understand how the disease develops and changes without experimental treatment. Researchers collect information such as symptoms, medical events, biomarkers, and quality of life to document the typical course of the condition. These studies help identify patterns, stages of disease progression, and meaningful outcomes for patients and families. Natural history data are especially important for rare diseases because they guide clinical care, inform trial design, and help determine how to measure whether future treatments are effective.
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 as well as their biological siblings and parents to give various types of samples throughout the year. We can also store bio waste from surgical procedures. Please email research@curectnnb1.org to learn more.