Ipsen in Rare Diseases: The essential role of natural history studies

The R&D paradigm in rare diseases has very different challenges to those associated with more common conditions. Making progress requires different thinking and strong collaboration between patients, academia and industry. We’re delighted to be sharing data from the Natural History Study at the 2020 ENDO conference (the Endocrine Society’s Annual Meeting). As the first study of its kind in Fibrodysplasia Ossificans Progressiva (FOP), we have gained valuable new insights, including a potential new way to track disease progression and gauge the effectiveness of new treatments. This study is the first protocol-specified, longitudinal evaluation of disease progression, in a representative cohort of patients living with FOP.1

This study contributes to increasing knowledge around the natural progression of FOP and specifically the impact of heterotopic ossification (HO) on patients’ physical functioning over time. Although the natural progression of FOP has been previously investigated, no studies have provided a detailed, protocol-specified, prospective evaluation of HO – until now.

Often misdiagnosed, FOP is an ultra-rare genetic disorder that affects approximately 1.36 per million individuals worldwide.2,3. It deeply impacts the quality of life of patients and is characterized by progressive and irreversible formation of bone in soft and connective tissues, known as HO.4 Sporadic episodes of painful soft tissue swelling called ‘flare-ups’ can precede HO.3  This heterotopic bone formation is permanent, cumulative and severely impacts physical function over time with most patients’ movements becoming extremely limited, often confining them to a wheelchair by their twenties.4 Currently, patients living with FOP are managed by a variety of different specialties, including endocrinologists.

While there have been significant advances in the field of rare diseases, there is currently no approved treatment for FOP. Disease management is focused on avoidance of injury or harm, symptomatic management of flare-ups, and optimization of residual function.4

There is a lack of awareness surrounding FOP among both health professionals and the general public. It is our hope that sharing data, debating these results and educating physicians on FOP and the impact of disease progression on physical functioning can help not just in the management of the disease, but in measuring the impact of potential treatments; a critical need for FOP patients.

At Ipsen, we’re working towards delivering life-changing treatments to patients living with rare diseases around the world, including those living with FOP. In close collaboration with the FOP community, we look forward to sharing further insights from this study to help researchers and physicians better understand the impact of disease progression on patients’ physical functioning over time.

Learn more Ipsen’s work in FOP here and see the full ENDO data here.

References

1. Al Mukaddam M et al. A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP): 12-Month Outcomes. Journal of the Endocrine Society. 2020; DOI: https://doi.org/10.1210/jendso/bvaa046.254
2. Lilijesthrom M & Bogard B. The Global Known FOP Population. Presented at the FOP Drug Development Forum. Boston, MA; 2016.
3. Baujat et al. Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases. Orphanet Journal of Rare Diseases. 2017; 12:123.
4. The Medical Management of Fibrodysplasia Ossificans Progressiva: Current Treatment Considerations, IFOPA. Accessed: May 2020. Available: https://fundacionfop.org.ar/wp-content/uploads/2019/05/GUIDELINES-May-2019.pdf