The impact of fibrodysplasia ossificans progressiva (FOP) on patients and their family members: results from an international burden of illness survey

What is this article about? Fibrodysplasia ossificans progressiva (also known as FOP) is a very rare genetic condition. In FOP, bone forms in places where it would not normally, such as muscles, tendons, and ligaments. This leads to loss of movement over time for people with FOP. Currently, there is very little information on the relationship between the physical impact, quality of life impact, and economic impact of the condition on people with FOP and their families. What was done? To address this gap, the first international FOP burden of illness survey was done between January 18 and April 30, 2021. People with FOP, referred to as the ‘patient’ population, and their family members took part in the online survey. This was available across 15 countries and in 11 languages. Researchers used multiple assessments to measure patients' movement and ability to carry out daily activities, quality of life for patients and family members, use of adaptive tools (also commonly referred to as living adaptations) by patients, and the impact of FOP on employment for patients and family members. What were the results? The survey received 463 responses in total (219 patients and 244 family members). The results show that older patients have greater loss of movement than younger patients, and this can have a negative impact on their quality of life. Also, as movement and the ability to carry out daily activities become more difficult, patients tend to rely on more living adaptations. There is also a negative impact of FOP on employment decisions. As a result, FOP may have a large financial impact that is highest for older patients and their families. There may also be a large financial impact on healthcare systems. What do the results mean? The results of this survey provide valuable information that can be used to improve care, resources, and support for people with FOP and their family members. Clinical Trial Registration: NCT04665323 ( ClinicalTrials.gov )