Knowledge, skills and attitudinal gaps in fibrodysplasia ossificans progressiva diagnosis and management in the United States

Abstract Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare and disabling disease. Preventing unnecessary and/or harmful medical procedures to patients requires early and accurate diagnosis, multidisciplinary care, and access to specialists with FOP expertise. This study aims to assess the needs of healthcare providers (HCPs) when providing care to patients with FOP. Knowledge, confidence and management practices were measured through a short awareness survey, completed by 400 HCPs from different specialties who may encounter patients with FOP. Complementary qualitative data were obtained from a dialogue session about FOP. Quantitative data was analyzed using descriptive and inferential analysis, while qualitative data underwent thematic coding. Results indicate a need for enhanced knowledge and confidence regarding identifying clinical manifestations of FOP, referral to FOP specialists and subsequent patient management. Only 8.8% of HCPs correctly identified FOP from an open-ended question showing malformed great toes, a classical clinical manifestation of FOP, and only 31.8% correctly identified FOP from a multiple-choice question showing heterotopic ossification on a child’s back, another classical clinical manifestation of FOP. Structural and system-level issues were also identified as barriers to optimal patient care pathways, with limited access to FOP specialists reported as a prominent concern. These results document a need for improvements in HCP knowledge in addition to local care collaboration and healthcare system optimization to meet the needs of patients with rare diseases. Given that FOP is an ultra-rare disease, educational interventions are recommended to focus on rare disease recognition, with FOP included as one topic. In addition, greater team collaboration and system-level approaches to assist HCPs in overcoming barriers that impede patient access to care and ongoing management, as well as interventions to enhance patients’ capacity to have informed communication with their HCPs, are needed.