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 a shared belief—that our children deserve answers, hope, and a brighter future.
Read the full report HERE
Research Progress & Scientific Breakthroughs
Over the past several years, our community has helped fuel significant scientific advancement, with more than $1 million invested in CTNNB1 research since 2019. This support is accelerating multiple therapeutic approaches and expanding what is possible for our children.
In 2025, researchers made meaningful progress across several fronts. Drug development efforts showed promising results, including the restoration of beta-catenin levels in patient-derived neurons. A 28‑compound drug repurposing discovery through high‑throughput screening opens new and faster paths toward treatment. At the same time, work on an mRNA booster therapy—supported by the Million Dollar Bike Ride—continued to move forward, while researchers also identified distinct gut microbiome signatures in CTNNB1 patients.
Importantly, this year also marked the launch of a Disease Concept Model, ensuring that the priorities and lived experiences of patients and caregivers directly inform clinical endpoints and future trials.
A Historic First: Clinical Trial Launch
In a landmark moment for the community, the CTNNB1 Foundation launched the first-ever clinical trial for CTNNB1 Syndrome. In December 2025, the first child received gene therapy—marking a major step forward and a powerful moment of hope for families around the world.
Advancing Clinical Trial Readiness
Behind every clinical breakthrough is years of preparation, and in 2025, that foundation grew stronger than ever. Forty-three patients are now enrolled in the Natural History Study at Boston Children’s Hospital, while global data efforts continue to expand, with hundreds of patients participating across registries including Simons Searchlight, Citizen Health, and our Global Registry.
In parallel, researchers have developed eight patient-derived cell lines and two animal models, critical tools that allow for deeper study of the condition and faster therapeutic development. At our annual CTNNB1 Conference, the collection of 843 biosamples further strengthened this shared research infrastructure, helping to accelerate readiness for current and future clinical trials.
Conference Highlights: Connecting Community & Science
Our conferences remain a cornerstone of progress, bringing together families, researchers, and clinicians to collaborate in meaningful ways. The CTNNB1 Conference in July 2025 welcomed 56 researchers and 65 families, creating an environment where connection and discovery go hand in hand.
These gatherings do more than share information—they actively drive research forward through collaboration, data collection, and the strengthening of relationships across the community. With four conferences hosted to date, their impact continues to grow.
Looking ahead, we will return to Boston on October 8–10, 2026, for what promises to be another pivotal convening.
A Critical Milestone: ICD-10 Code (Q87.88)
This year also brought a major step forward in recognition and diagnosis. CTNNB1 Connect and Cure helped secure the first dedicated ICD-10 diagnostic code for CTNNB1 Syndrome: Q87.88.
This achievement will improve diagnostic accuracy, enable better identification of patients within medical records, and strengthen clinical trial feasibility. It also lays the groundwork for more accurate global tracking of the condition, an essential component of long-term progress.
Strengthening Family Support
While research advances are critical, so too is the strength of our community. In 2025, we expanded programs designed to support families in tangible and meaningful ways.
The launch of a Caregiver Support Group created a safe space for connection and shared experience, while the continued growth of Virtual SibShops provided siblings with their own community of understanding. Educational resources also expanded, including caregiver-focused tools and app support, alongside new episodes of the CTNNB1 Connect & Cure Podcast.
We also deepened partnerships, including collaboration with the Cerebral Palsy Research Network to better address important co-diagnoses and improve care for individuals with CTNNB1 Syndrome.
Growing Awareness & Expanding Reach
Throughout the year, our community continued to raise awareness and expand its reach across the rare disease landscape. Participation in major conferences and workshops, combined with powerful storytelling campaigns, helped bring greater visibility to CTNNB1 Syndrome.
At the same time, collective fundraising efforts like the Million Dollar Bike Ride demonstrated the strength and unity of this community, while new collaborations and increased media visibility further amplified our impact.
Looking Ahead
The year ahead holds tremendous promise. With clinical progress underway and a growing global network of families, researchers, and advocates, 2026 is poised to be transformative.
Our goal is to raise $525,000 to accelerate research, deepen family support, and continue advancing therapeutic opportunities for every individual living with CTNNB1 Syndrome.
Together, we are turning hope into action—and building a future where answers, treatments, and brighter outcomes are within reach.
