What working in rare disease has taught me about supporting better FOP clinical practice

By Dr Rolf Morhart

My journey to help make an impact

I first became interested in pediatrics during a 3-year stay abroad in a South African hospital in the late 1970s. It was there that I realized how much I value the open nature of young people and it was this experience that inspired me to devote my career to this area of medicine. So, when I returned to Germany, I started to train as a pediatrician and eventually took over the position of Chief Physician in adolescent and children's medicine at Garmisch-Partenkirchen Clinic¹. My career then evolved to working within the rare disease field, with a particular focus on the ultra-rare disease Fibrodysplasia Ossificans Progressiva (FOP) which through a genetic mutation (ALK2/ACVR1) leads to new bone formation where bone typically does not form or should not exist including in muscle and connective tissue². This progressively restricts movement and most patients become immobilized and confined to a wheelchair by their third decade of life, requiring lifelong assistance for daily activities.

Although in recent years progress has been made, there are still a lot of unknowns in FOP. As soon as I became aware of the disease, I was determined to help make a positive difference and together with the International Clinical Council (ICC) on FOP, we have helped consolidate best practices, via a global voice, for clinical care and clinical research for those living with FOP³. But there is still more to be done. In light of FOP Awareness Day, and the positive progress made in this field, I would like to share some learnings from my experience of working in this area.

Access to the right professionals is key

It is estimated that 400 million people worldwide are affected by one of 6,000-8,000 rare diseases⁴, but treatments are even rarer with only a few hundred existing. FOP is an ultra-rare disease affecting 1.36 per million people worldwide, which when compared to many other diseases, is lacking in knowledge and information, even within the teams who work in the rare disease space. Throughout my career of working in FOP I recognize a specific expertise is required to guide our thought-process and help us make the best decision for the person and their unique experience living with FOP. This expertise goes beyond clinical and scientific knowledge but is about listening to the person, their experiences and challenges and how you can support with not just the management of their FOP as it progresses, but also where we can help in other ways where their life is impacted by their condition.

The rarity of diseases like FOP pose a challenge for accessing the right level of care, for example those living with FOP in Germany frequently don't have an expert in their area, so they are forced to travel in order to get an evaluation and proper management of their disease with the appropriate clinician. Accessing clinical teams with the right level of expertise is critical to all people living with rare diseases, but is of paramount importance in FOP to prevent harm or trigger disease progression which can be caused by routine diagnostic tests including biopsies, inappropriate therapies like operations to remove heterotopic bone or invasive medical interventions. On a practical level people living with FOP should avoid injections and surgery as this can trigger a flare-up of their disease and increase the chances of muscle/connective tissue turning to bone.

As we are becoming more active in teaching in this field, we are hoping to reduce this gap, and create more opportunities for those living with FOP to find the right healthcare professionals (HCPs), ideally someone locally, to support them through their diagnosis and beyond. I feel proud to have had the opportunity to meet and work with many inspirational colleagues and leaders in the advocacy community across my career, to increase awareness and education for FOP.

There has been great progress, but we need to continue pushing new research and screening standard of care

Although some challenges are yet to be overcome, there has been major progress in the rare disease field in the last 30 years due to medical improvements, such as genetic disease assessment. For FOP in particular, a key development was the discovery of the mutation in the FOP gene, ALK2/ACVR1. This scientific achievement made it possible to facilitate greater research and fill the gap in how and why new bone was being formed outside of the human skeleton. This has enabled researchers and others in the field to undertake more work, increasing our knowledge through further research and clinical trials exploring potential therapeutic options.

On a national level, we are also starting to see countries prioritize rare disease care and incorporate more specific assessments as part of their standard of care. Within the last month Brazil has introduced newborn screening as part of the newborn assessment to look for the sign of unusually shaped big toes at birth, a sign of FOP. This will certainly have a huge impact on FOP management in Brazil. Incorporating screening protocols like this in our countries will make important strides in earlier diagnosis and widespread recognition across healthcare teams.

Support is vital

While increased clinical research and overall disease awareness/education are vital for those living with rare conditions like FOP, it is not the only form of support that is needed. Family support is of upmost importance and can range from day-to-day challenges to key milestones like diagnosis and treatment.

Currently, there are several institutions in the field dedicated to supporting those living with FOP and rare diseases in general; patient organization groups like International Fibrodysplasia Ossificans Progressiva Association (IFOPA) have been invaluable in their support to the FOP ecosystem. In my opinion the IFOPA is a true leader in rare diseases worldwide for their work supporting those living with FOP. In addition to raising funds, supporting research, holding regular webinars on range of topics (such as mental health or COVID-19's impact on FOP), they also offer many useful resources to help individuals learn about FOP and are key in informing treatment guidelines⁵. They are making a strong and positive impact through their work. I truly hope their approach can be multiplied and spread across different healthcare fields and rare disease areas as the support patient organizations provide is invaluable.

What I would like up-and-coming HCPs to know

Support depends on more than one factor (family, patient organization and HCPs) - it is crucial we, HCPs, play our part in making a difference in the lives of those living with rare diseases like FOP. You may not encounter many people living with rare diseases in your clinic across your career, but no matter how rare the scenario or unique the case, the knowledge of these diseases shouldn't be.

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