Bridging the knowledge gap in rare bone disorders: insights from the APCO Asia-Pacific Rare Bone Disorders Engagement (ASPIRE) survey.

This first-of-its-kind survey reveals deep gaps in awareness, diagnostic confidence, and access to resources for rare bone disorders across the Asia-Pacific. It calls for urgent action to improve care, diagnosis, and transition across the lifespan for those living with these diseases. PURPOSE: Rare bone disorders (RBDs) are often misdiagnosed or diagnosed late, causing irreversible complications that could have been prevented by early identification and intervention. This survey assessed awareness among healthcare providers across various specialties with the goals of identifying knowledge gaps as well as barriers in education, clinical practice, and health policy regarding RBDs. METHODS: The ASPIRE survey was designed by a steering committee of international experts and administered to attendees of an Asia-Pacific musculoskeletal congress held in Singapore. It included multiple-choice questions, short answers, and situational case studies. RESULTS: Of 106 clinician attendees, 96 completed the survey. While 71.9% of respondents had some knowledge of RBDs, only 36.5% had ever managed a patient with a RBD. Overall, 76.0% of respondents indicated not feeling qualified to diagnose or treat RBDs; 74.0% were unaware of any RBD national or international guidelines, and 66.7% were unaware of any new specific medications available in the last 5‒10 years to treat any RBD. Among those who attempted diagnosis of two clinical vignettes, only 46.3% correctly identified X-linked hypophosphatemia, and only 32.4% correctly identified hypophosphatasia. The survey also highlighted substantial barriers to effective RBD care, including gaps in medical education and training, and limited access to diagnostic tools and RBD specialists. CONCLUSION: This first of a kind survey provides evidence of the stark lack of awareness of RBDs in the Asia-Pacific region. Urgent attention is needed from educators, clinicians, and policymakers to address the educational, structural, and policy gaps identified.