NIH helped pave the way for two new therapeutics for people with ultra-rare bone disease
Scientific discovery is a lengthy process that can take decades to provide relief for those suffering from rare diseases. Early and sustained investments in research on these conditions can make the difference between life and death for these individuals. The National Institutes of Health (NIH) has supported investigations on fibrodysplasia ossificans progressiva (FOP) in order to help patients with this disease, which is an ultra-rare genetic disease characterized by devastating, abnormal bone formation in soft tissues such as muscle, tendons and ligaments, causing limited movement, deformities, severe disability, and early death.
Beginning in 1994, NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) supported research into the genetic, molecular and cellular basis of FOP. More recently, NIAMS has funded numerous research teams and universities around the nation to explore promising therapeutic approaches. This foundational knowledge has been leveraged by pharmaceutical companies to develop therapies for the disease. As a result of these efforts, in August and September of this year, the U.S. Food and Drug Agency (FDA) announced approvals for the second and third drugs for this patient group.
Pasatru (garetosmab-grts) and Atebrioz (zilurgisertib) block the activation of a faulty receptor, called activin A receptor-type 1 (ACVR1), that contributes to abnormal bone growth in people with FOP. Pasatru is an antibody that blocks binding of activin A to the faulty receptor. In a 56-week clinical study, participants taking Pasatru only developed up to two new areas of bone growth, compared with 19 new areas of bone growth in the placebo group. Atebrioz is a daily pill that blocks the activity of that same faulty receptor. In a 24-week study, patients taking Atebrioz experienced an average decrease of 3.2 cm3 in measured abnormal bone volume, while those taking a placebo had an average increase of 24.6 cm3.
Great strides have been made in developing therapeutic treatments to help block ACVR1-induced bone growth. That said, the research continues and NIAMS will continue to support research to improve the lives of people with FOP and other rare bone diseases.