“Better treatments for FOP are not just a dream - they are now likely, and a cure is a distinct possibility.”  - The Eighteenth Annual Report of the Fibrodysplasia Ossificans Progressiva (FOP) Collaborative Project, page 64.

There are lots of terrible things about FOP.  However, as rare diseases go, there’s one really, really good thing about it: FOP is being researched and gradually conquered, inch by treacherous, frustrating inch.

The FOP Collaborative Project is a group of medical/scientific researchers who are putting their all into trying to understand FOP and design effective treatments for the disorder.  The heart of the group is the amazing team of scientists at the Centre for Research into FOP and Related Disorders at the University of Pennsylvania in Philadelphia, USA.  Lead by orthopedic surgeon Dr. Fred Kaplan and geneticist Dr. Eilleen Shore, the “FOP Research Lab” as it is commonly referred to, is the centre of FOP research in the world.  The UPenn lab isn’t the only place where FOP is studied, however, as scientists in Tennessee (USA), London (England) and other locales also contribute to the Collaborative Research Project.

From the point of view of people with FOP and their families, it is enormously comforting to know that many talented researchers are working so hard to wrestle the FOP beast under control.  Amazingly, these doctors and scientists even take the time to produce an annual research report designed to educate the FOP community of their important progress…

The annual report comes out every May, and is authored (this year, at least) by Dr. Kaplan, Dr. Robert Pignolo (MD/PHD) and Dr. Shore.  I read it earlier today, and I saw that it covers interesting breakthroughs on a number of fronts during the past year.  Specifically, the report tells us of the following:

- Research shows that the mutant FOP gene alone isn’t enough to cause FOP.  For FOP to become active, there MUST be a trigger of the immune system, whether by a macroscopic cause - some sort of trauma causing inflammation - or a microscopic cause - a virus.  This fact has been previously suspected, but was ultimately confirmed this year.

- Computer imaging has produced a model of the damaged ACVRI (FOP mutant) gene.  This allows researchers to examine the ways in which various proteins and other factors interact with the gene to produce FOP flare-ups.  Now, scientists in Texas are working with the computer model to determine the atom-by-atom design of the FOP gene.

- Early studies are suggesting that FOP flare-ups are triggered in a cellular environment with low oxygen content.

- Blood vessels were found to be a vital source of progenitor cells for the formation of FOP bone.

- Zebrafish, a form of freshwater minnow, has a gene which is analogous to the ACVRI.  Since these fish develop outside their mothers’ bodies, and are small, it’s easy to study their embryonic development in a lab setting.  Introduction of an FOP-type mutation caused severe developmental malformations in the fish.  As well, various bone morphogenic protein (BMP) receptors important to FOP have been identified by studies of the zebrafish.

- A substance called Dorsomorphin has been identified which blocks the operation of the ACVRI gene.  Dorsomorphin is being carefully examined to see whether it might be suitable to treat FOP.

- Studies of FOP are being conducted on fruit flies, chickens, and perhaps most importantly, mice.  The FOP Lab has created a “chimera” mouse which has the FOP genetic mutation and all the salient features of FOP.

Those are, as near as I could tell, the highlights.  My apologies if I didn’t explain any of this properly…  If you’re interested, I recommend checking out the report at www.ifopa.org, which has a PDF available for downloading.  The report explains that many of the research revelations have great significance to developing therapeutic treatments for FOP.

I’m struggling to explain how these various studies will affect the development of FOP therapies.  I really can’t do it justice myself, in fact, so will quote again from the report:

“Work is proceeding not only to block and disable the damaged FOP gene, but also to target the triggers, cells and cellular microenvironment that are critical parts of the pathway.  While exciting progress is being made, there are both predicted and unforeseen obstacles to progress - all surmountable in time.  We are wrestling with the pitfalls and challenges of drug development and proceeding boldly to solve them.”  - page 24.

I can’t begin to say how much this work means to me, my family and the FOP community.  If these researchers can come up with a way to treat FOP, it will be the greatest and most precious gift anyone will ever have given us.

Here's my darling Miranda with butterfly face make-up.

Just imagine the day when the ravages of FOP will be a memory.  My gorgeous girl, her friend Erin and all others with FOP will be eternally grateful to the researchers in the FOP Collaborative Research Project.

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