Dear Family, Friends, and Partners of CTNNB1 Connect & Cure,
As we reflect on 2025, one thing is clear: our community is driving extraordinary momentum for CTNNB1 research, awareness, and family support. Every milestone in this year’s Impact Report is a direct result of your belief that our children deserve answers, hope, and a brighter future.
Read the full report here:
2025 Impact Report
Below are some of the most meaningful accomplishments you helped make possible:
🌟 2025 Impact Highlights
🔬 Research Progress & Scientific Breakthroughs
Over $1M invested in CTNNB1 research since 2019, accelerating multiple therapeutic approaches.
Major advances across the research pipeline, including:
Drug development breakthroughs restoring beta‑catenin levels in patient‑derived neurons
A 28‑compound drug repurposing discovery through high‑throughput screening
Meaningful progress on the mRNA booster therapy, funded through the Million Dollar Bike Ride
Identification of distinct gut microbiome signatures in CTNNB1 patients
Launch of the Disease Concept Model to ensure that patient and caregiver priorities guide clinical endpoints.
🧬 First‑Ever Clinical Trial for CTNNB1
The CTNNB1 Foundation launched the first clinical trial for CTNNB1 Syndrome, with the first child receiving gene therapy in December 2025 — a historic milestone for our entire community.
📊 Clinical Trial Readiness
43 patients enrolled in our Natural History Study at Boston Children’s Hospital
302 patients in Simons Searchlight, 121 in Ciitizen/Invitae, and 524 families in our Global Registry
Creation of 8 CTNNB1 patient‑derived cell lines and 2 animal models
Successful collection of 843 biosamples at our annual CTNNB1 Conference
👥 Conference Highlights
Our community gatherings have been pivotal in accelerating research and connecting families with scientists:
Four conferences hosted to date
Boston Conference, July 2025:
56 researchers in attendance
65 CTNNB1 families in attendance
843 biosamples collected
2026 Conference: Planned for Boston, MA | October 8–10
These conferences foster collaboration, enable critical data collection, and strengthen the bonds within our community, driving research and care forward.
🏥 ICD‑10 Code Achieved (Q87.88)
This year, CTNNB1 Connect and Cure helped secure the first dedicated ICD‑10 diagnostic code for CTNNB1 Syndrome, enabling:
More accurate diagnosis
Better patient identification in electronic medical records
Stronger clinical trial feasibility and readiness
Improved epidemiological tracking worldwide
💛 Family Support & Community Programs
Launch of the Caregiver Support Group, providing a safe and supportive space for families
Growth of our Virtual SibShops, empowering siblings through connection
Expanded educational resources, including caregiver app support
New episodes of the CTNNB1 Connect & Cure Podcast
Partnership with the Cerebral Palsy Research Network to address important co‑diagnoses
📣 Awareness & Growth
Participation in major rare disease conferences and workshops
Powerful awareness campaigns sharing family stories and resources
A united community fundraising effort through the Million Dollar Bike Ride
Increased collaborations and media visibility across the rare disease space
💙 Looking Ahead
2026 will be a pivotal year. We are setting an ambitious goal to raise $525,000 to accelerate research, deepen family support, and continue advancing therapeutic opportunities for every person living with CTNNB1 Syndrome.
Together, we are turning hope into action — and we are so grateful you are part of this journey.
With gratitude and hope,
The CTNNB1 Connect & Cure Team