FOP has a major impact on patients’ lives. FOP causes difficulty of movement, joint stiffness, and can lead to difficulties with eating and breathing. Most patients with FOP are bedridden by age 20 and have a life expectancy of 40 years.4 Patients with FOP must adjust their lifestyle so as to not quicken the progression of their condition by being careful to avoid injury, which means not playing contact sports and avoiding falls. As the disease continues to progress, patients eventually become unable to perform simple tasks of daily life such as cooking or bathing.4 Life also becomes increasingly expensive for patients with FOP, costs for caregivers, and tools to help individuals maintain their independence despite their limited mobility.





Despite the effects of this disease patients such as 18-year-old Seanie Nammock from London do their best to stay positive. Nammock was diagnosed with FOP at the age of 12 when her mother noticed an abnormally large hump on her back after a fall. The inflamed area was being replaced with bone causing excruciating pain for Nammock, which caused her doctor to make the diagnosis. Nammock’s neck and backbone have since fused together preventing her from lifting her arms beyond her waist.4 Nammock can no longer play tag rugby or visit the gymnasium as she used to do. Despite her diagnosis, Nammock does her best to live her life as any normal teen girl would; she spends time with friends, cooks, shops and has her friends help her with hair and makeup.



As previously mentioned, research on FOP is very difficult to conduct; presently there are only 800 people in the world with the disease that researchers are aware of making it challenging to conduct proper clinical trials. Currently, the main treatments for patients with FOP are high-dose corticoids taken within 24 hours of a flare-up to reduce inflammation and tissue swelling.5 Other drugs such as muscle relaxants, and other drugs which reduce inflammation may be recommended for use by a physician, but these treatments do nothing to stop the progression of the disease, they only help manage the symptoms.5 Another method which has been proven ineffective and is no longer used is surgery to remove excess bone, which only ends up causing an increase in ossification due to its intrusive nature.1 The best chance for prevention of FOP lies in drug development which is currently being explored by scientists.



Current treatment options are palliative, and symptom-modifying but do nothing to prevent the progression of the disease. What is needed is a drug which prevents FOP from ever occurring. Current research is being done to prevent the excessive signalling of the BMP1 receptor, and within the last year progress has been made. Many studies have found that blocking BMP1 activity through inhibitors is the most effective way of decreasing the progression of FOP.6-8 One study by Hatsell et al. in 2015 has determined that activin A, a protein which normally functions to inhibit the BMP receptor, stimulates the mutated receptor in FOP patients.9 Additionally, when the antibody to activin A was present in mouse studies no ossification occurred.9 This discovery is a big step forward as it provides a target for future drug development. By focusing on how to apply this discovery to human patients’ scientists can work to create a cure for FOP.



A different study by Chakkalakal et al. in 2016 has produced promising results, it emphasized the inhibition of secondary messenger systems in the BMP pathway, stopping the formation of cartilage which would ultimately turn into bone.10 The drug Palovarotene prevented the formation of cartilage in mice studies, which stops it from being ossified and turning into bone.10 Palovarotene is currently being tested in Phase 2 clinical studies to determine an appropriate dosage of the drug in treating FOP.11 This development is a major step forward for patients with FOP because it provides a potential treatment for a disease that for so long has been considered untreatable.



The ultimate goal of FOP research is to provide a cure so affected individuals can regain their independence and enjoy a higher quality life. As clinical trials progress and additional research is conducted, scientists will continue to advance towards this goal.