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

• Published in: Anales de Pediatría 2024-12, Vol.101 (6), p.401-410
• Main Authors: Barreda-Bonis, Ana-Coral, de Bergua Domingo, Josep Maria, Galán-Gómez, Enrique, Guillén-Navarro, Encarna, Leiva-Gea, Isabel, Riaño-Galán, Isolina
• Format: Article
• Language: English
• Subjects: Achondroplasia; Achondroplasia - drug therapy; Achondroplasia - therapy; Acondroplasia; Asistencia sanitaria integral; Care team; Child; Consenso; Consensus; Equipo multidisciplinar; Holistic health care; Humans; Patient Care Team - organization & administration; Spain; Vosoritida; Vosoritide
• ISSN: 2341-2879; 2341-2879
• DOI: 10.1016/j.anpede.2024.09.012

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. 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. 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. 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. Los pacientes con acondroplasia presentan, además de una talla baja desproporcionada, múltiples manifestaciones que requieren de un abordaje integral. El presente consenso de expertos en España responde a la necesidad de establecer unas directrices claras para el manejo de la acondroplasia con la introducción de un nuevo tratamiento, vosoritida. Para la elaboración del consenso participó un panel de seis expertos en acondroplasia. Estos desarrollaron una revisión narrativa sobre las recomendaciones en acondroplasia y el tratamiento con vosoritida, que se consensuaron y adaptaron al contexto español en dos reuniones posteriores con formato de discusión estructurada. Este consenso de expertos incide en que la acondroplasia requiere de un manejo especializado y multidisciplinar donde se impliq