Fibrodysplasia Ossificans Progressiva: Science, Diagnose, and Treatments

 24 June 2026

Fibrodysplasia Ossificans Progressiva: Science, Diagnose, and Treatments

Fibrodysplasis Ossificans Progressiva or (FOP) is a rare genetic disease where the muscles, ligaments, and tendons become rock solid bone. Where it creates a second skeleton and immobilizes the body. It’s important for us to learn about this disease because it builds awareness for people who struggle with it and makes it known. This disease affects people who had a gene mutation during the early stages of embryonic development. But in some cases it can be inherited from parents but most cases are from a gene mutation in the ACVR1 receptor.






Next, the science behind how one gets this disease is quite interesting. First it starts out as a cluster of cells and in those cells are stem cells. Where they can turn into any cell in the body, whether that be blood cells, bone cells, brain cells, and etc. And they multiply when we are sick or injured. Now in this area of needing a repair there are substances that cling to protein of incoming stem cell receivers which tells the cells what to become and are called receptors. But the receptor called ACVR1 develops a mutation where it misinterprets a protein called Activin A. So basically it reads the protein as something completely different than what it’s trying to say. Where it reads it as needing to signal bone forming cells or BMP that stands for Bone Morphogenetic Protein and are the proteins which inform stem cells to turn into bone cells, instead of muscle cells to repair muscle for example. Bone growing in the wrong place is called Heterotopic Ossification or (HO).  

Furthermore, some ways doctors diagnose FOP is by looking at patients' big toes to see if they’re crooked or abnormally large, these are early signs of having FOP. Another early sign is having a really stiff neck/back with bumps and swellings on the back, shoulders, neck, and head. Unfortunately sometimes these bumps can be mistaken for cancer, which throws doctors off. These symptoms usually begin in early childhood but some patients notice symptoms much later. FOP always gets worse over time, which can show with less mobility than before, jaw fused which can limit eating, and even speaking. 

Additionally, there are some treatments available with FOP that doctors are trying out in clinical trials and other studies. A drug called Palovarotene that has recently been approved by the FDA and is being used to treat males above the age of ten and females above the age of eight in the U.S. Russia, Canada, and Australia. Where the drug reduces new HO to grow during flare ups. So with reducing BMP signaling it can also make the volume of HO bone smaller. Another drug similar is called Garetosmab, where it’s job is to bind onto Activin A to block it from binding to the receptor, where it stops it from turning on HO in FOP. Because during a mutation the receptor reads Activin A wrong so the drug inhibits it which makes it so the receptor doesn't read it at all and stops the abnormal bone growth.

To conclude, four thousand people suffer with this disease worldwide and even though that isn’t a lot, these people still matter and are struggling. FOP is one of the worst diseases to live with and more people need to understand what they go through on a daily basis. They need our support to find cures and improve drugs to help improve their disorder. By building awareness we make sure they aren’t alone and have communities of people who are there for them. 


Work Cited

Shore, Eileen M. “Fibrodysplasia ossificans progressiva (FOP): A human genetic disorder of extra-skeletal bone formation, or - How does one tissue become another?” PMC, https://pmc.ncbi.nlm.nih.gov/articles/PMC3297114/. Accessed 24 June 2026.

“All about FOP.” The Pathologic and Pathophysiologic-based treatment of FOP, https://www.iccfop.org/guidelines/4-pathologic

Collins, Michael T. “About FOP.” Twists in the fibrodysplasia ossificans progressiva story challenge and expand our understanding of BMP biology, 15 June 2022, https://www.jci.org/articles/view/160773.

“Clinical trials in FOP.” Clinical studies and trials, https://www.ifopa.org/ongoing_clinical_trials_in_fop.

“FOP with garetosmab.” Optima trial (garetosmab), https://www.ifopa.org/regn2477.

“FOP with palovarotene.” Pivoine trial (palovarotene), https://www.ifopa.org/palovarotene.

What is FOP? Learn the science behind FOP, https://www.ifopa.org/what_is_fop.









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