Slovenian family initiates research into rare genetic disease

Ljubljana, 13 April - The parents of Urban, a one-year-old boy who has been diagnosed with a rare neurodevelopmental disorder called the CTNNB1 syndrome, have initiated research to develop a therapy for treating the disorder. Now they are raising money to finance the team of scientists from around the world working on the project.

The CTNNB1 syndrome is a severe neurodevelopmental disorder caused by a mutation at the chromosome 3p22.1 of the CTNNB1 gene. It was discovered less than 10 years ago. It causes delays in development, intellectual disorder and speech delay.

So far, more than 300 people have been diagnosed with the condition. Recent studies suggest that the CTNNB1 gene is the most frequent cause for misdiagnosed cases of cerebral palsy.

Since the condition is so rare, the industry is not interested in funding the expensive research, so Urban's mother, Špela Miroševič, a researcher at the Medical Faculty of the University of Ljubljana, managed to bring together a team of scientists from all over the world, who have already developed a genetic therapy for the CTNNB1 syndrome.

She also founded the CTNNB1 foundation, which is now in need of EUR 2 million for the research and development of the therapy.

The CTNNB1 gene usually responds well to genetic therapy and in the past this approach has proved successful in similar disorders.

Without treatment Urban would most probably never walk, talk or be independent. But children with similar conditions receiving treatment started walking and talking, Urban's parents said.

"Our family has financed the production of the medicine for the first year. The project takes two years. We must also pay for a clinical study," Miroševič said in a post on social networks, asking for donations to the foundation financing the project.

The genetic therapy will not only help Urban, but will be available to all patients with this condition, the Miroševičs say. All children diagnosed with cerebral palsy at the Ljubljana Paediatric Clinic will now be tested for the CTNNB1 syndrome.

"I hope some other children in Slovenia will thus be found whom gene therapy could change their life," Urban's mother said.

Anyone can contribute to the research and development of the medicine by sending the text URBAN5 to 1919 for a five-euro donation. Donations are also being raised at the online platform GoFundMe, where a few thousand euros has been raised so far.