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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.