Knowing what to expect with FOP

Posted by Karen - November 15th, 2015

In 2007 when my then-2-year-old daughter Miranda was first diagnosed with fibrodysplasia ossificans progressiva, I remember reading about how it would likely progress. I learned that for the 97% of people with Miranda’s type of FOP, the following could be said:

– About 50% of people have their first flare-up before age 5, and the outside limit for the remaining 50% is around age 20.

– Flare-ups first occur on the back and later on the front of the body (dorsal to ventral pattern) and also begin on the trunk, which is the centre of the body, and later move down the limbs (axial to appendicular pattern).

– Most people lose the ability to walk and require a wheelchair by the second or third decade of life (i.e., by the teens or twenties), though some can still walk longer than that.

That was more or less the limit of what science could tell us in 2007. Apparently this information was gleaned from simple observation plus limited studies conducted decades ago on a handful of subjects. This level of knowledge was, apparently, sufficient for quite a long time. When there was no way to prevent or stop flare-ups, and all that could be done was to treat symptoms, there wasn’t much of a need for more detailed information.

Skeleton of Harry Eastlack, a man who had FOP.

Skeleton of Harry Eastlack, a man who had FOP.

We are now, however, living in a very different world. The 2006 revelation of the FOP gene discovery propelled research into the modern era, and by 9 years later, there’s an FOP drug trial underway right now and a number of others on the horizon for the next few years. To know how effective any one particular medicine might be, scientists need a lot more information about how FOP progresses than the few bits I’ve noted above.

Recognizing this fact, the FOP scientists at UPenn created a questionnaire about FOP flare-ups which was translated into several languages and distributed to 685 patients in 45 countries. The hope was to get much, much more detailed information about how what happens with FOP, and when, and how it could be described. As it turns out, the response to the questionnaire was excellent – by the deadline of mid-2013, about 500 people with FOP and/or their caregivers responded. This is a rate of about 73%! The researchers put together a paper concerning their findings, and this week, the paper was accepted for publication: (to read the article, you have to pay to access it, which I did)

The information contained in the paper based on this study will be invaluable to scientists needing to evaluate potential new drugs. Without it, they lack context to determine whether a given drug is having any measurable impact on the expected progression of the disease. As noted by the authors of the paper, “A major reason why clinical trials fail is the lack of valid natural history studies.” (p. 12) The information contained in this paper gives scientists some vital basic information to consider as they move forward with FOP research.

It’s so fantastic to see this type of research being published. Step by step, we’re moving toward what people with FOP so desperately need: effective treatment.

Here's what FOP is doing to the skeletons of FOP patients.

Another FOP skeleton.


On a separate note, another exciting publication which came out this week was the autumn report of the FOP research team at the University of Oxford in England. Yes, FOP is fortunate enough to have two dedicated research teams!

In the Oxford report, the researchers commend on different ways to block FOP gene activity, and explain that they have identified a compound which blocks a vital protein produced by the mutated FOP gene. Even better than that, there is current ongoing research on human cancers involving this substance, and research to date indicates that the substance is, “…potent, selective, stable and safe to use.” (p. 41) The Oxford team is very enthusiastic about this potential drug, and is working on getting the necessary approvals to take it through FOP drug trials in the (hopefully) near future.

This is really incredible news. To read the Oxford report, go to this link:

Big thanks to the Oxford team!


PS – If you or your child have FOP and want to learn more about how to get involved in drug trials or other ways to help with FOP research, go to the website of the International FOP Associationg at

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