Expert consensus for the management of patients with achondroplasia in treatment with vosoritide

Abstract

INTRODUCTION: Patients with achondroplasia present, in addition to disproportionate short stature, multiple manifestations that require a comprehensive approach. The present consensus of experts in Spain responds to the need to establish clear guidelines for the management of achondroplasia with the introduction of a new treatment, vosoritide. MATERIAL AND METHODS: A panel of six experts in achondroplasia participated in the development of the consensus. They developed a narrative review of the recommendations on achondroplasia and vosoritide treatment, which were agreed upon and adapted to the Spanish context in two subsequent meetings with a structured discussion format. RESULTS: This protocol underscores that achondroplasia requires specialised and multidisciplinary management involving expert paediatricians and specialists in paediatric endocrinology or medical genetics, in collaboration with specialists in neurology, neurosurgery, pneumology, otorhinolaryngology, rehabilitation, and orthopaedics or psychology, among others, with adequate coordination of care. This interdisciplinary team should be involved in the planning of vosoritide treatment (including the education of patients and caregivers, with management of their expectations, and their training in the practical aspects of vosoritide administration), treatment initiation and close monitoring with regular assessment of anthropometric, biochemical, functional or patient-reported variables. CONCLUSIONS: This protocol for the administration of vosoritide will allow standardised implementation and optimization of treatment outcomes. It also offers an opportunity to improve the management of achondroplasia in Spain through a comprehensive and interdisciplinary approach.