Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, mainly sporadic genetic disorder that has been reported in ~800 people worldwide. It was formerly known as myositis ossificans progressiva. For general reference information on FOP, please see www.ifopa.org.
FOP was first characterized by physicians as early as the early eighteenth century. However, the scientific and medical communities’ understanding of the underlying genetic cause of FOP is relatively recent.
In 2006, the underlying cause of FOP was described as being due to mutation in ACVR1, the gene that encodes a type I bone morphogenic protein (BMP) receptor kinase protein called ACVR1, also known as ALK2.
ACVR1-mediated signaling occurs when ligands (circulating factors) that belong to the BMP/TGF-β family engage this receptor together with a corresponding type II receptor to form a complex. Once formed, this complex sets off a signal within the cell via a set of specialized signaling proteins, the Smads.
Regeneron’s research findings have built upon this prior knowledge of how signaling through ACVR1 proceeds to advance understanding of the molecular mechanisms that cause FOP. In particular, Regeneron’s research findings have established how FOP-causing mutations in the ACVR1 gene alter one of ACVR1’s functions and have linked that change to the observation that, in FOP, HO typically follows inflammation in the soft tissue.
To learn more about our approach and findings, please see The FOP Story – Our Research Findings.
Licensed medical professionals may indicate interest in participating in Regeneron’s FOP clinical research program by contacting our Medical Information Department on 1-844-MID-REGN (1-844-643-7346) Monday through Friday 8am - 8pm EST or by filling out the form below.
Scientists may indicate interest in collaborating with Regeneron in FOP research by contacting our Medical Information Department on 1-844-MID-REGN (1-844-643-7346) Monday through Friday 8am - 8pm EST or by filling out the form below.
Licensed medical professionals and scientists may request specific information about FOP and Regeneron’s FOP program by contacting our Medical Information Department on 1-844-MID-REGN (1-844-643-7346) Monday through Friday 8am - 8pm EST or by filling out the form below.