Reply to ‘Ensuring diverse representation and minimizing conflicts of interest in clinical practice guidelines’

Abstract

Thank you for your thoughtful letter (Schelhaas, A. et al. Ensuring diverse representation and minimizing conflicts of interest in clinical practice guidelines. Nat. Rev. Endocrinol. https://doi.org/10.1038/s41574-025-01122-y (2025))¹ concerning the recent guidelines regarding the implementation and monitoring of vosoritide therapy in individuals with achondroplasia (Savarirayan, R. et al. International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia. Nat. Rev. Endocrinol. https://doi.org/10.1038/s41574-024-01074-9 (2025))². Vosoritide is now available for the treatment of children with achondroplasia in more than 50 countries. The core purpose of these guidelines was to provide evidence-based and experience-based recommendations for physicians to assist with the informed initiation, responsible monitoring and appropriate cessation of vosoritide therapy when it has been deemed appropriate and requested by families and/or children with achondroplasia. These guidelines are not intended to promote the use of this medication and recommendation R10 states that “it should be recognized and fully supported that not all patients and their caregivers will decide to pursue therapy (strong recommendation, Delphi 100%)”. Many members of this consensus group were also members of the panel that published international guidelines³ concerning the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia, which aimed to promote multidisciplinary, holistic and evidence-based care of these individuals.

As explicitly stated in the Acknowledgements, “BioMarin was not involved in the selection of the guideline development group, defining the guideline scope, the voting process, analysis of the results or preparation of the submitted manuscript.” Many of the consensus group have been key figures in evaluating the safety and efficacy of vosoritide in clinical trials and this was fully disclosed, as per journal policy, prior to the Consensus Statement being commissioned. The selection of all expert panels can be inherently biased with conflicts; we sought to minimize this bias by using an independent mapping tool⁴ to inform selection of the expert panel, in addition to our combined experience (290 collective years) in treating and managing the care of patients with achondroplasia.