The FOP Story

A Brief History of Research Into FOP

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.

The History of Research into FOP: 1736 - NowFOP is Caused by Mutation in ACVR1

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 Regulates an Intracellular Signaling Pathway Involved in Normal Cell Function

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 is Advancing Our Understanding of FOP

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.

Medical Information 1-844-MID-REGN (1-844-643-7346) 8am-8pm EST Mon-Fri
I am a licensed medical professional and would like to participate in Regeneron's FOP clinical research program

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.

I am a scientist and would like to collaborate with Regeneron in FOP research

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.

I would like additional information about Regeneron’s FOP Program

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.

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This site is intended for licensed medical professionals and research scientists only. You are being directed to IFOPA’s website, which contains general reference information regarding FOP. If you have specific questions regarding Regeneron’s FOP research program, please have your doctor contact our Medical Information Department on 1-844-MID-REGN (1-844-643-7346) 8am - 8pm EST Mon-Fri.
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