State to fund research into rare children's disease
Ljubljana, 6 November - A case of a five-year-old boy Urban, who has a congenital CTNNB1 gene mutation and whose mother initiated research to develop a therapy for treating the disorder and a high-profile fund-raising campaign to finance the project, has prompted the state to approve funding of the final stages of research into a cure for rare children's disease.
Ljubljana
Logo of the CTNNB1 foundation.
Photo: The CTNNB1 foundation
The CTNNB1 syndrome is a severe neurodevelopmental disorder caused by a mutation at the chromosome 3p22.1 of the CTNNB1 gene, which affects one in 50,000 children. It causes delays in development, intellectual disorders and speech delay.
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 to develop a genetic therapy for the syndrome.
She also founded the CTNNB1 Foundation, which in cooperation with charity Palčica Pomagalčica, raised more than EUR 2 million for the project in a about two years.
The therapy has passed pre-clinical testing and another EUR 250,000 is reportedly needed for the final phase of development.
After four years, Miroševič seems to have succeeded in her efforts to secure state funding for the project, as the government sent into a fast-track procedure on Tuesday changes to the Scientific Research and Innovation Activity Act that envisage state funding for the final stages of development of treatments for rare children's disease.
Presenting the changes, Higher Education Minister Igor Papič and Health Minister Valentina Prevolnik Rupel said this is to benefit Urban too. Papič said they had sought a solution that could be implemented as soon as possible, before the end of the year.
The changes allow for "virtually a hundred-percent pre-payment", he said, adding that Slovenian researchers were expected to be involved in the development of the treatment.
The Government Communication Office said state funding will be available primarily for research that is to help children at a very young age.
Those seeking funding of their research will have to apply for funding at the Higher Education Ministry and submit an opinion of the Agency for Medical Devices and Medicinal Products and the Health Ministry.
Miroševič told the STA that the legislative changes meant that clinical studies will be able to be conducted for their project and that they would not have to raise any more funds.
She told web portal 24ur.com this was a big success for the Miroševič family as well as the state and "for all children who will be diagnosed with this condition in the future".
"I am very happy. It turned out we have all the tools to develop such medicine in Slovenia. Slovenia now follows the example of countries that already support NGOs in such projects." She also finds it crucial that the state will guarantee non-profit prices for the treatment.