New Hope for Children with CTNNB1 Syndrome

Thank you to everyone that has supported us! We don't have words to describe our gratitude. We didn't know what to expect when we decided to go public with our story. We only hoped for a positive response, but never imagined so many people supporting us. We are more determined than ever to say goodbye to "CTNNB1 Syndrome".

With everyone's support, we were able to raise 401.651 EUR (488.520 USD) in less than two months. This is enough to cover the preclinical studies - we are simply blown away!

The 2-year »Gene Therapy« project you are funding is currently developing patient pluripotent stem cells into neurons and brain organoids. Researchers are also designing several variants of therapeutic CTNNB1 genes and the corresponding genes that regulate their expression. They will then test those variants in patients' iPSC cells and organoids. See the website (www.ctnnb1-foundation.org.) for more information.

The treatment we are developing has a potential to help around 400 kids and many more generations.

Those kids need, as Magic Jonson said once: "a little help, a little hope and someone who believes in them".

Thank you for believing in our children.

We are also proud to announce that our observational study "Correlation of genotypes and phenotypes in children and adults with the CTNNB1 mutation" led by Assoc. prof. dr. Damjan Osredkar is now published in Clinical Trials, US National Library of Medicine (https:// clinicaltrials.gov/ct2/show/NCT04812119?

cond=ctnnb1&draw=2&rank=1).

When we started even thinking about the possibility that we can make a difference for Urban and other children affected with this syndrome, we knew we can't think about how difficult it would be to raise so much money. The idea was so crazy that if we would think about it too much, we would get depressed and probably would never start with this.

Today we feel relieved that with your help we gathered enough money to start with the research and hopefully get a cure for Urban and every other child affected with this syndrome.

Thank you everyone for your help. We will never forget it. Spela, Samo, little Iva, and sweet Urban.