Achondroplasia.expert literature review: January–March publications 2025

Literature review – Quarter 1 2025

Six papers were highlighted in our review of the literature from the first quarter of 2025. Barreda-Bonis et al. presented a protocol developed via expert consensus for the administration of vosoritide▼ in Spain. A manuscript by Cormier-Daire et al. shared data from a vosoritide real-world early access program in France which indicated a positive benefit–risk profile consistent with clinical trial data. Hoover-Fong et al. presented a guide for HCPs conducting anthropometric measurements of people with disproportionate short stature. Full deck summaries are also available for these three publications.

Merchant, Hoover-Fong, and Carroll presented 4 scenarios illustrating age-specific ACH-related issues that an endocrinologist may face in a clinical setting when considering treatment with vosoritide. Reincke et al. shared the real-world data on growth in children with ACH treated with vosoritide over a 12-month period. Finally, Vallin et al. carried out a study to describe foetal imaging and the ante- and postnatal management of pregnancies diagnosed with foetal ACH.

International consensus guidelines on vosoritide▼ in with achondroplasia

This study was carried out to provide practical guidance for professionals and health services worldwide on vosoritide use in the treatment of achondroplasia. A total of 16 leading experts and patient advocates representing nine countries convened to form a guideline development group. This group developed statements to provide recommendations across the treatment pathway, from treatment initiation, ongoing monitoring and evaluation, to stopping vosoritide treatment and the continued follow up after cessation. These guidelines recommend a minimum set of requirements and a practical framework for professionals and health services worldwide.

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Vosoritide▼ and health-related quality of life in children with achondroplasia

Savarirayan et al. assessed the impact of vosoritide on growth-associated health-related quality of life (HRQoL) in children with achondroplasia. Data were gathered using the Quality of Life in Short Stature Youth (QoLISSY) questionnaire. Vosoritide improved self-reported and caregiver-reported QoLISSY physical and social scores, with the greatest increases being seen in participants with a ≥ 1 SD increase in height Z-score…