Fibrodysplasia Ossificans Progressiva (FOP) 

What is Fibrodysplasia Ossificans Progressiva (FOP)?
Fibrodysplasia ossificans progressiva (FOP) is a disorder in which skeletal muscle and connective tissue, such as tendons and ligaments, are gradually replaced by bone (ossified). This condition leads to bone formation outside the skeleton (extra-skeletal or heterotopic bone) that restricts movement. More information about FOP may be found on the NIH’s website. 

What is the prevalence of Fibrodysplasia Ossificans Progressiva (FOP)?
FOP is extremely rare with a worldwide prevalence of approximately one in two million. 

How is Fibrodysplasia Ossificans Progressiva (FOP) diagnosed?
Misdiagnosis of FOP is common but can be avoided simply by examining the individual’s toes for the characteristic feature, short great toes. The diagnosis may be confirmed by a thorough clinical evaluation, characteristic physical findings, and sequencing of the ACVR1 gene. 

Is there any specific gene/pathway in Fibrodysplasia Ossificans Progressiva (FOP) that has been identified?
Sequence analysis of the ACVR1 gene is integral to making a molecular genetic diagnosis of FOP.

How is Fibrodysplasia Ossificans Progressiva (FOP) treated?
There are no known effective treatments for FOP but clinical trials are underway. Certain types of drugs have been used to relieve pain and swelling associated with FOP during acute flare-ups (most notably corticosteroids) and non-steroidal anti-inflammatory medication between flare-ups. More information on treatment may be found here: https://rarediseases.org/rare-diseases/fibrodysplasia-ossificans-progressiva/. 

Are there any clinical trials underway for Fibrodysplasia Ossificans Progressiva (FOP)?
The National Institutes of Health (NIH) has completed 4 clinical trials for FOP. Currently, there are 10 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?recrs=&cond=Fibrodysplasia&term=&cntry=&state=&city=&dist= 

How can RareShare be helpful to Fibrodysplasia Ossificans Progressiva (FOP) patients and families?
The FOP Rareshare community has 7 members. There are currently 0 active discussions underway. New discussions can help to connect patients, health workers, caregivers and families interested in FOP and provide them continual access to community resources.

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