FOP: Trapped in bone
FOP is a rare and disabling genetic condition affecting approximately 1 in 2 million people. It is characterised by malformations of the big toes and progressive bone formation in muscles, tendons and ligaments, which causes extra bone to develop to form a second skeleton. This can occur in recurrent episodes of soft tissue swelling (or flare ups) which can be unpredictable or can occur following trauma, illness or surgery and progressively restricts movement.
FOP is caused by mutations in a single gene, ACVR1. Our group was centrally involved in identifying the ACVR1 gene, and now we are using this information in potential treatments for FOP that are coming into trial.
We are currently conducting 2 studies for patients with FOP. The first is a non-interventional, observational study which will hopefully determine the best imaging modalities to monitor the progression of disease, as well as the best mobility measures to monitor functional limitations. The second study is a clinical trial which is investigating the use of a drug called palovarotene. This is a retinoic acid receptor gamma selective agonist which will hopefully slow the progression of disease and reduce the number of flares that a patient can experience.
How can you help?
If you are interested in helping or would like more information on this project, please contact Linda Bradbury (nurse practitioner) on +61 7 3443 7078.
Skeleton of FOP sufferer Harry Eastlack (1933-1973).
The College of Physicians of Philadelphia Digital Library
“Fibrodysplasia Ossificans Progressiva,” The College of Physicians of Philadelphia Digital Library, accessed August 10, 2017, http://www.cppdigitallibrary.org/items/show/4383.