Recent advances in the treatment of a genetic growth disorder

The Pavel Krejčí Research Group from the Department of Biology of the Faculty of Medicine, Masaryk University and International Clinical Research Center of St. Anne's University Hospital Brno (FNUSA-ICRC) have made significant progress in the treatment and development of a genetically determined growth disorder. They found out that the impaired bone growth leading to achondroplasia can be partially reversed using a synthetic molecule of ribonucleic acid, called RNA aptamer. These results were published in a prestigious scientific journal Science Translational Medicine at the beginning of May this year.

In patients with achondroplasia, bone growth is significantly slowed down, leading to dwarfism and other related health problems. The causative agent of achondroplasia is a specific mutation in DNA that leads to hyperactivation of a signalling pathway called FGFR3. Effective treatment for achondroplasia is still yet to be found.

In this study, our researchers focused on the therapeutic potential of the RNA aptamer RBM-007 developed several years ago to treat age-related macular degeneration (AMD) – the most frequent cause of blindness in the civilized world.

Both when delivered to the cells isolated outside of the organism (so-called in vitro conditions) and in case of a direct application into the mouse model, RBM-007 enhanced physiological processes within the cartilage. RBM-007 supported the cartilage growth,  suppressed its premature ageing and degradation of the cartilaginous extracellular matrix. “In this study, we have re-localized the AMD drug for the treatment of achondroplasia. The drug has already entered the first phase of clinical trials in Japan. Its successful application can significantly improve the life quality of patients with achondroplasia,” said Pavel Krejčí.