New Treatment Could Improve Care for Two Bone Diseases

Researchers from the Bellvitge Biomedical Research Institute (IDIBELL) and the University of Barcelona (UB) have described the ability of a PI3KÎ ± inhibitor (BYL719) to block the formation of 39, ectopic bone in mice. This could lead to improved treatment of two pathologies: heterotopic ossification and progressive bone fibrodysplasia (FOP, a rare bone disease). The study was led by Dr. Francesc Ventura, leader of the cell signaling and bone biology group.

Heterotopic ossification (OH) consists of the appearance of ossifications in inappropriate locations (ectopic formation), such as tendons, muscles and connective tissue. For this pathology, there are risk factors such as prolonged immobility, spinal injuries, burns, hip operations and muscle trauma. "While knowing this, we still do not fully understand the causes and the most appropriate treatment for the disease," said Dr. Francesc Ventura.

On the other hand, FOP is a rare disease very similar to OH but that originates from a genetic mutation. FOP patients have mutations in the gene encoding a bone growth factor receptor (BMP), ACVR1. The disease is gradually induced by episodes of inflammation that result in the gradual formation of bone in muscles, tendons and ligaments. These ossifications significantly reduce the mobility and life expectancy of those affected. There is currently no treatment for this disease.

"What we observed in this study, is that in stem cell cultures and in preclinical models of the disease, the inhibitor of BYL719 prevents the formation of ectopic bone-induced mutations in ACVR1, "says Dr. Ventura. The BYL719 inhibitor was approved by the FDA last May for use in patients with metastatic bad cancer. Therefore, there is a large amount of information on the use of BYL719 in humans. "In this study, we showed that it could also play an important role in the ossification and treatment of these bone diseases," adds Ventura.