What is CTNNB1 Syndrome?

CTNNB1 syndrome is a rare and severe neurodevelopmental disorder that affects nearly every aspect of a child’s life, impairing movement, communication, and cognitive development, while also causing significant behavioral and sleep challenges. These difficulties extend beyond the individual, profoundly impacting the quality of life of the entire family.

In some children, the progression of spasticity and dystonia has been observed. Although these children may learn to walk in early childhood, this ability can be lost over time due to worsening of symptoms. As these symptoms progress, children may gradually lose previously acquired skills such as walking, self-feeding, and other aspects of independence.

With this treatment, we don’t just hope, but we expect to not only stop the progression of symptoms but also to improve their current development. That’s why it is so urgent for children to receive this therapy as soon as possible.

Who Are We?

The CTNNB1 Foundation is a global, research-driven nonprofit dedicated to developing life changing gene therapies for children with CTNNB1 syndrome.

We collaborate with leading researchers, scientists, clinicians, and institutions around the world to turn hope into real medical breakthroughs.

Why We Need Your Support

Over the past year, we’ve reached incredible milestones, including receiving Orphan Drug Designation for our gene therapy, completing preclinical development, and successfully submitting our first-in-human clinical trial application to the European Medicines Agency (EMA).

But we’re not at the finish line yet. We are now just months away from treating the first child, and we need your support to make that possible.

We are at a critical stage in preparing to launch our clinical trial and urgently need to secure funding to cover essential outstanding costs.

Thanks to the generous support of the ASOCIACIÓN CTNNB1 SPAIN, which has contributed €40,000, and additional donations from our founders totaling €15,000, we have already raised €55,000. To move forward without delay, we still require €445,000.

Your donations will directly cover the last outstanding invoices for:

Completion of the manufacturing of the medicine
Biodistribution studies
Regulatory and trial-related activities

Join The Journey

This is the final push, and we need you with us.

We invite you to be part of this journey to give CTNNB1 children a chance at a better future.

At this critical point we ask you to reach out to your local community - your friends, neighbors, companies or workplaces - and join forces to raise between €1.000 and €5.000 each.

With only around 500 CTNNB1 families across the globe, we need just one-third to come together and make this treatment possible.

URBAGEN: CTNNB1 Syndrome Gene Therapy Program

Will you be part of that one-third who makes history for our kids?

Every amount raised brings us closer to our goal. By supporting our fundraising initiatives, you play an invaluable role in writing potentially a new life for our CTNNB1 children.

Please visit our website for more information: www.ctnnb1-foundation.org

The Final Push for CTNNB1 Gene Therapy

By CTNNB1 gene therapy foundation

The Final Push for CTNNB1 Gene Therapy

With your support, we can bring life changing treatment to CTNNB1 children this year.

Team Members