Fibrodysplasia ossificans progressiva (FOP), was first discovered back in the 17th and 18th centuries, with early cases reported by Guy Patin and John Freke. What exactly is this disease with such a long, convoluted name? FOP, also known as “Stone Man Disease”, causes the muscles and soft tissue to ossify over time and develop into bone. Extra bone is produced between different soft tissues, forming bridges that appear to encase the original skeleton in another layer of bone. FOP is quite rare in the general population: 1 in 2 million people are diagnosed with it. The disease can be passed on genetically. Common characteristics and symptoms of FOP are the malformation of the big toe, swelling in parts of the body, and appearance of extra bone formation. In many cases, the disease is often misdiagnosed as some form of cancer.
So far, there have not been any effective means of treating the disease. While the extra bone developed from the soft tissue can be removed via surgery, it is not recommended because removal does not prevent new bone bridges from developing between the tissue. In fact, in some cases surgery can actually cause the condition to worsen.
Recently, Regeneron Pharmaceuticals has discovered a possible treatment plan for FOP. The cause of FOP is a mutation in the bone protein receptor, ACVR1. When a specific protein (activin A) binds to ACVR1, the receptor is activated, and causes the unwanted bone formation. The researchers developed an antibody that would recognize activin A and bind to it. The binding of the antibody to activin A prevents it from activating ACVR1, which in turn inhibits the unwanted bone production. This new antibody brings high hopes for individuals suffering from the disease. The condition may affect only 800 people in the world, but this treatment plan has the potential to actually cure the disease instead of merely alleviating the pain it causes. With very few treatment options available for people suffering from this debilitating disease, this innovative antibody could be the answer they’ve been looking for all along.
Feature Image Source: Rory MacLeod
