Treatments and Disease Management

Fibrodysplasia ossificans progressive does not have any treatment at this time (Kaplan et al 2013). Because tissue trauma induces FOP flare-ups, invasive treatments such as surgical removal of the abnormal bone growth are impossible (Kaplan et al 2013). Treatment for patients predominantly focuses on preventing trauma or inflammation that can lead to flare-ups (Kaplan et al 2013).

 

Source
Source: Yadin et al 2015

Due to the extreme rarity of the condition, many questions still remain about how it functionsand how to approach treatment. Research is being done, but it will likely be many years before effective treatment is developed. There are a few potential treatment targets for FOP. One of the most obvious is finding a way to inhibit the mutant ACVR1 to block its signaling pathway (Kaplan et al 2013). Research is currently being done in this area (Yu et al 2008, Micha et al 2016). In one study, an inhibitor of Smad signaling was developed (Yu et al 2008). Their inhibitor was only partially able to reduce ossification; more studies would need to be done to optimize the treatment (Yu et al 2008). Another study looked at what biological markers were present during cell differentiation in an attempt to intervene during that stage of the disease (Micha et al 2016). Much like the last paper, a potential drug target was identified, but the results of the potential inhibitor were questionable.

 

Structure of ACVR1 binding to FKBP12.6 and dorsomorphin. Source:
Structure of ACVR1 binding to FKBP12.6 and dorsomorphin. Source: rcsb.org

One of the major difficulties in developing a treatment is that we don’t yet understand exactly how and when spontaneous flare-ups occur in FOP (Kaplan et al 2013). The paper mentioned above that searched for biomarkers of flare-ups was a step in the right direction. As of now we don’t understand much about the detail of flare-up progression. Due to the impact of trauma on FOP patients, it is also difficult to monitor or treat their condition. Looking for specific biomarkers could be a way to study their ossification progression and determine how well potential drug therapies are working.