Dear Family, Friends, and Partners of CTNNB1 Connect & Cure,

As we enter the 3rd quarter of 2024, we want to take a moment to provide some exciting updates as well as our heartfelt gratitude for your support in our mission to find treatments and a cure for CTNNB1 syndrome.

July 25th is CTNNB1 Awareness Day!

Awareness is SO important for rare diseases like CTNNB1 Syndrome. Our families have been working hard to educate others in their local communities, on social media, and even on the news! They have also been creating personalized fundraising pages for their dragonfly to post far and wide on July 25th  – see their adorable faces and stories here!

Will you help us raise awareness by sharing this new video? 
Please paste the link
https://youtu.be/5T6p8pIgmk0?feature=shared
in a text, email, or social media post.

Fundraising Progress

So far in 2024, we have raised a total of 
$169,312!

THANK YOU to all of the donors and fundraisers who contributed to this number. 
Let’s keep the momentum going! To help support all CTNNB1 fundraising efforts, we have created a fundraising page with ideas and inspiration along with some premade resources.

MDBR 2024

CTNNB1 Connect and Cure joined 38 other rare disease organizations for the UPENN Orphan Disease Center’s annual Million Dollar Bike Ride in Philadelphia. This was our group’s first year participating in this event and we had riders represented in all three distance categories (72, 33, and 10 miles). Participants included CTNNB1 caregivers, clinicians, and volunteers (shoutout to Bear Crossfit in Delaware). Our riders were joined by several walkers in the Million Dollar Mile event which included a few of our very own dragonflies. CCC was able to raise a total of $32,914 and with matching funds from UPENN it came out to $62,914 which put us in 10th place overall! This funding will go directly towards research grants available to researchers looking for a cure or treatment for CTNNB1 Syndrome. Thank you to everyone who participated, donated, and volunteered – you are the ones who made it a huge success!

First Photo: Fimple and O’Mara Families with their dragonflies Zane and Alexander
Second Photo (L to R): Krirk Pongsema, Adam Hughey, Terrence Oncay, Dr. Drew Scoles, Tina Wilson, Wayne Wilson, Jill Haile, Tony King Sr, Daniel Stevens, Kenny Hall, Noah Siedman

We are diligently progressing with our research efforts in preparation for Clinical Trials. While the small molecule treatment continues optimization in the Jacob Lab at Tufts University, we are hosting our second round of in-person assessments for our Natural History Study. The study moved with Dr. Wendy Chung from Columbia University to Boston Children’s Hospital. These evaluations consist of motor testing, cognitive testing, a research EEG, and a neurological/physical exam and interview. Collecting continuous data on patients with CTNNB1 syndrome is vital to future clinical trial readiness with the FDA and other regulatory agencies. 

Behind the Scenes