Currently, there are more than 771 rare bone diseases (RBDs) known to mankind, yet most remain poorly understood and difficult to treat. Lack of awareness about, and inadequate experience even amongst physicians in managing RBDs have resulted in delayed care and misdiagnosis for persons suffering from these devastating disorders. To recognize and tackle the most urgent unfulfilled gaps in the diagnosis, assessment, and management of RBDs, it is crucial for all RBD-affiliated groups to engage in collaborative efforts toward a shared mission and vision. Thus, in 2021, a pioneering multi-stakeholder initiative, a world’s first – the Rare Bone Disease Summit was launched, and a steering committee comprised of key experts representing the medical community, patient advocacy groups, and the pharmaceutical industry was established and charged with the single mission of improving the lives of people living with RBDs.

The first Rare Bone Disease (RBD) Summit was held in December 2021. The successful two-day virtual summit united the global Rare Bone Disease community. In addition to the 13 steering committee members, it included 52 RBD experts from the larger clinical, academic, and patient community as well as the pharmaceutical industry, who all volunteered their time and expertise to create a platform for the multi-stakeholder group to meet, partake in discussions and work together toward improving the lives of patients living with these conditions. Prof Manju Chandran, Chairperson, APCO and Faculty, Skeletal Rare Disorders Academy, International Osteoporosis Foundation was proud to represent these organizations as a Summit Steering Committee member.

Delegates were split into groups and assigned to one of the 3 workshops that each explored the following topics:

• Overcoming obstacles to diagnosis by improving awareness of RBDs
• Implementing person-centered care pathways
• Narrowing the communication gap between patients and HCPs

In each workshop, the delegates were encouraged to discuss challenges related to RBD and their workshop theme while exploring potential solutions/actions to overcome these key identified challenges. During the second day, the results of every workshop were communicated to the entire group, followed by additional deliberations on the significance of each identified gap, the practicality of potential solutions, and the possibility of overlooking any essential factors. Four themes of outcomes were identified that were considered barriers to optimal RBD care:

• Improving RBD awareness and education
• Leveraging digital health
• Removing silos and working collaboratively
• Establishing guidelines.

Summit delegates reached a consensus on the outcomes that could be pursued in the near future. Based on these outcomes, a vote was conducted to select a single key activity from each workshop to progress with. It is anticipated that the format and organisation of the summit will evolve over the years to reflect and address the objectives and unique challenges that may present themselves during the implementation of the various projects envisioned by the 2021 summit.

A position paper was written to summarise the key discussions and decisions made at the RBD summit and share the outcomes from the 2021 RBD Summit. The article’s lead authors were Prof Manju Chandran and Dr Inês Alves, founder of the European Rare Bone Forum (ERBF) and ANDO Portugal. The delegates identified various challenges during the summit, and the proposed short and long-term solutions have been discussed extensively in the paper. The position paper was published in the June 2023 issue of the prestigious journal, Osteoporosis International. The paper further details the various activities that can be actioned on in the short and long term to surmount four barriers identified during the summit.

The action plan formulated during the RBD Summit 2021 serves as an essential foundation for enhancing the care of individuals residing with RBDs. The authors in the paper acknowledged the need for continued collaboration among RBD summit delegates to ensure the discussed short-term plans are actioned on, which will create more RBD awareness. They hope that the momentum generated from these combined initiatives can drive and fuel the next summit, where the steering committee hopes to work on the long-term plans identified at RBD Summit 2021. The uniqueness of the RBD Summit was that it was disease and drug agnostic, and future activities will continue to be so. However, at future summits, some of the more prevalent RBDs, those with management protocols in place, and/or have clear therapies available, will be discussed in a holistic manner with common themes covered.

To read the full text of the article, click here.
To learn more about the Rare Bone Disease (RBD) Summit, click here.

Reference:
Chandran, M., Alves, I., Carpenter, T. et al. Improving care pathways for people living with rare bone diseases (RBDs): outcomes from the first RBD Summit. Osteoporosis Int (2023). https://doi.org/10.1007/s00198-023-06791-x