After just 20 days, a clinical trial is demonstrating something previously unthinkable:
Just a few weeks ago, a child received—for the first time in history—a gene therapy specifically designed for CTNNB1 syndrome, the very condition Jimena lives with.
This is not an advertisement.
It is not a promise.
It is an active clinical trial conducted with the utmost scientific rigor.
In a mere 20 days, his mother, Špela, is already describing something that, until now, simply did not exist:
a clear reduction in spasticity—a body that is more relaxed, more “normal.”
A child who previously faced enormous difficulties walking is now doing so almost entirely on his own.
In just 20 days!
Yes, this must be stated with all the necessary scientific caution.
But it also comes with a sense of hope that simply wasn’t there before.
It is worth putting this into context—even if writing these words gives me goosebumps.
Developing a gene therapy typically costs a pharmaceutical company between €150 million and €250 million.
Our foundation—a non-profit driven by families, scientists, and doctors—has taken this therapy from scratch all the way to a real-world clinical trial for a cost of roughly €5 million.
Not because we possess some magical powers.
But because here, there is no marketing, no shareholders, and no unnecessary bureaucracy.
There is focus, rigor, and a sense of urgency that leaves no room for distraction.
Now comes the crucial part.
In 2026, we aim to:
– expand the clinical trial to include Spain and the United States
– treat more children
– manufacture new batches of the therapy
– advance through the regulatory approval processes
And to achieve this, we need more resources.
Not to “conduct research someday.”
But to treat children *now*.
To ensure we do not halt a process that has already proven itself possible.
Furthermore, what is being built here is not solely for CTNNB1 syndrome.
It represents a genuine door opening for many other rare diseases that, to this day, remain without any viable treatment alternatives.
This is not merely emotional philanthropy.
It is an investment in measurable human impact.
It is extreme efficiency applied to one of the greatest medical challenges of our time. If you are an entrepreneur, an investor, or someone with the capacity to champion projects that deserve to exist, this is one of those moments where pitching in truly makes a difference.
The therapy is already underway.
The difference between moving forward and grinding to a halt is, at this point, purely financial.
P.S.: I’ve included a link in the comments where you can contribute financially (right there, you can even see Spela’s son walking on his own—it’s truly moving).
P.P.S.: If you share this post, it might just catch the eye of an entrepreneur with the financial means to revolutionize this entire process (and be sure to let them know it’s tax-deductible).
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Author: desertedbeach
