{"id":22962,"date":"2023-05-12T18:09:08","date_gmt":"2023-05-12T18:09:08","guid":{"rendered":"https:\/\/d36deud6t4mnhi.cloudfront.net\/?p=22962&preview=true&preview_id=22962"},"modified":"2023-09-22T09:35:09","modified_gmt":"2023-09-22T07:35:09","slug":"understanding-the-true-impact-of-living-with-fop","status":"publish","type":"post","link":"https:\/\/www.ipsen.com\/us\/rare-diseases\/understanding-the-true-impact-of-living-with-fop\/","title":{"rendered":"Understanding the true impact of living with FOP"},"content":{"rendered":"\n

This year marks the 17th<\/sup> anniversary since the discovery of the ACVR1<\/em> gene was announced, a major scientific milestone in fibrodysplasia ossificans progressiva (FOP) research that helped us understand what causes the condition. On April 23, we marked FOP Awareness Day to honor this important anniversary, raise awareness of this ultra-rare genetic condition, and celebrate the strength of the FOP community, who face challenges every single day that most of us would find unimaginable. At Ipsen, we recognize the importance of advocating for the unique and complex needs of people living with FOP and although FOP Awareness Day is one very important day, we will never lose sight of the fact that the FOP community deserves our ongoing and long-term commitment every day. In order to succeed in addressing the significant unmet needs that exist, working together with the FOP community is of paramount importance.<\/p>\n\n\n\n

We believe it is our responsibility to listen to the first-hand experiences of the FOP community in order to drive positive change. One way we can do this is through studies that truly put those living with FOP at the center of our research, such as burden of illness surveys and natural history studies, which are vital tools to expand our knowledge in rare diseases. Research like this allows us to design clinical trials that explore those aspects of a disease that are the most impactful and relevant to patients, such as disease progression, physical, social, emotional, and quality of life outcomes.<\/p>\n\n\n\n

It would be impossible for most of us to understand what someone living with an ultra-rare, chronic, painful and progressive condition like FOP is going through.1,<\/sup>2<\/sup> What we do know, however, is that FOP causes ongoing, irreversible bone growth in soft tissues outside of the normal skeletal system, which is known as heterotopic ossification (HO).3<\/sup> This new bone growth leads to joints becoming immobile, causing progressive loss of movement \u2013 many people with FOP need to use a wheelchair by 30 years of age.2<\/sup>,4<\/sup> Extra bone growth associated with FOP can also cause the jaw to lock, creating difficulty eating and speaking. Additionally, restrictions in the chest can lead to cardiorespiratory failure and ultimately lead to many people living with FOP to have a reduced life expectancy.5<\/sup><\/p>\n\n\n\n

The closest we can get to understanding the realities of living with a rare disease like FOP, is by actively listening to patients about the true impact that it has across every aspect of their lives. By ensuring the patient voice is embedded throughout the end-to-end process of clinical development, including dissemination of findings, the resulting research can be used to bring meaningful change.<\/p>\n\n\n\n

Refining rare disease research<\/u><\/strong><\/p>\n\n\n\n

Research in rare and ultra-rare diseases brings challenges that are different to those in other disease areas \u2013 these include very small patient populations that make it difficult to find individuals who are willing and able to participate in research,6<\/sup> lack of wide-spread disease specific knowledge6<\/sup> and expertise to build upon,4<\/sup>,7<\/sup> clinical trial complexity with a lack of known and agreed upon endpoints,6<\/sup> high research and development costs8<\/sup> with a notable failure rate.9<\/sup><\/p>\n\n\n\n

To try to break down some of these barriers and better understand the day-to-day realities for people living with FOP, their family members and caregivers, as well as the healthcare professionals (HCPs) who support them, we designed two complementary projects: a prospective, natural history study and a burden of illness survey. Both studies were created in partnership with the FOP community \u2013 who not only helped to design them, but who continue to be pivotal as we work to understand and disemminate the insights.<\/p>\n\n\n\n

Firstly, the Natural History Study \u2014 a first-of-its-kind in FOP. Previously, there was limited research in this area, so the study was designed to more comprehensively describe the natural disease progression and was the first time a global, prospective, longitudinal evaluation of FOP has been carried out, with data collected over a period of 36 months. Findings demonstrated the debilitating impact and progressive nature of FOP, and key insights include:<\/p>\n\n\n\n\n

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