[Author: Laura Cowen]
A meeting of key stakeholders in the fibrodysplasia ossificans progressiva (FOP) community has highlighted the major challenges and opportunities for improvement in care pathways and patient involvement in research.
The meeting, which took place in March 2021, “was convened to give a voice to the FOP community,” write Robert Pignolo (Mayo Clinic, Rochester, Minnesota, USA) and co-attendees in the Ophanet Journal of Rare Diseases. Among them were clinical experts and researchers from the International Clinical Council on FOP (ICC), patients, patient advocates, caregivers, and members of FOP organizations such as the International FOP Association (IFOPA), FOP Friends, Tin Soldiers, and Fundación FOP.
In their discussions around pathways to care, the stakeholders noted that although the time to FOP diagnosis has decreased in recent years, delays are still common, with more than half of patients initially misdiagnosed.
In addition, people with FOP see an average of 3.3 healthcare providers (HCPs) before receiving a correct diagnosis, which suggests “that there is a disconnect between the HCPs first consulted and those who are most likely to accurately diagnose patients,” they say.
An opportunity for improvement in this area would be to simplify key messaging and raise awareness of FOP characteristic features among HCPs such as pediatricians who are most likely to see a patient at first presentation. The team also suggests that recognition of FOP could be optimized through the use of web search, social media, and medical data repositories as parents, caregivers, and HCPs often use these information sources to search for a diagnosis.
They stress, however, that “it is important that individuals are steered towards trustworthy sources of information and advice,” and have provided a list of online resources available for people with FOP.
Having a dedicated primary physician who can coordinate care between non-specialists and FOP experts is another way that care pathways could be improved, say Pignolo et al.
The group also discussed the challenges associated with transition from pediatric to adult care, which can be a cause of anxiety for patients with rare diseases for several reasons. They write: “It can be difficult to find a primary physician willing to assume responsibility for the coordination of a patient’s care into adulthood. Identifying an adult-care physician early on in the transition process and including them in care management discussions with the patient, caregivers and pediatrician can help to mitigate the anxiety experienced by patients and caregivers, and ensure the continuity of high-quality, specialized care.”
Empowering patients and guiding them toward self-advocacy is something that IFOPA and other national organizations provide help with as this can increase the likelihood of a successful transition to adult care, note the collaborators.
In terms of FOP research, the group reported that although “[p]atients played a pivotal role in the discovery of the FOP gene and continue to be instrumental in advancing FOP research,” access to clinical trials and information about current research is limited for many of them.
In addition, the unique needs of people with FOP, including ethical considerations around post-trial care and access to treatments, must be considered during clinical trial development.
Another challenge regarding FOP research is that disease progression is still not fully understood. This could be overcome by conducting research to identify soluble biomarkers, investigate the role of disease progression, and understand joint manifestations in FOP. But before and during such research, industry should engage with patients and families to clearly communicate the risk and benefits and also share non-proprietary information to build knowledge and avoid duplication, say the stakeholders.
The group believes that “the rise of telemedicine during the [COVID-19] pandemic could provide a framework to improve access to care and clinical studies/trials for individuals with FOP around the world.”
“Telemedicine can facilitate access to specialists for the management of care in FOP, particularly for patients who are not able to travel or have limited access to local medical specialists,” they write.
Increased comfort with videoconferencing has also led to increased engagement with online meetings such as IFOPA’s annual FOP Family Gathering, which gives people an opportunity to learn about the latest FOP research experts, and get tips for disease management and daily living from other people with FOP.
The authors conclude: “It is critical to ensure that all individuals with FOP are afforded equitable access to care and treatment.”
They add: “Along with the continuing efforts from the IFOPA, the ICC, national FOP organizations, the Tin Soldiers Global FOP Patient Search, and Industry, increasing awareness of the unmet needs facing the FOP community among key audiences will be vital to address these challenges and improve the care of patients globally.”