Genetics in medicine : official journal of the American College of Medical Genetics · 2026
Evaluating the impact of vosoritide on complications of achondroplasia.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Savarirayan Ravi, Hecht Jacqueline T, Jayaram Kala, Ingole Sheetal, Dee Anne, Hoover-Fong Julie
Аннотация
PURPOSE: Impaired endochondral bone growth in people with achondroplasia causes complications that impair function, cause pain, require surgery, and contribute to mortality. Rates of complications in participants with achondroplasia enrolled in clinical trials of vosoritide, a targeted treatment, were analyzed and compared with published natural history (NH) rates.
METHODS: Prevalence (medical history + new events post-treatment initiation) and incidence (new/worsening events posttreatment initiation) were calculated for complications across 6 clinical trials (2.5-30 μg/kg/day vosoritide) in children with achondroplasia, stratified by age at treatment initiation (<5 years/≥5 years). Complication-related procedures and mortality rates were examined.
RESULTS: By August 2024, 230 participants received vosoritide (68 aged <5 years at treatment initiation [exposure, 289.1 person-years]; 162 aged ≥5 years at treatment initiation [exposure, 834.5 person-years]). Prevalence for most complications was consistent with or lower than NH rates. Incidence of leg malalignment; foramen magnum stenosis; spinal stenosis; kyphosis; lordosis; hydrocephalus; ear, nose, and throat complications; and pain was generally lower than NH rates. Foramen magnum decompression frequency was 3.0% overall (5.9% in participants who initiated treatment aged <2 years). Crude mortality was lower than NH rates.
CONCLUSION: Vosoritide was not associated with worsening of complications in children with achondroplasia and may reduce their frequency.
METHODS: Prevalence (medical history + new events post-treatment initiation) and incidence (new/worsening events posttreatment initiation) were calculated for complications across 6 clinical trials (2.5-30 μg/kg/day vosoritide) in children with achondroplasia, stratified by age at treatment initiation (<5 years/≥5 years). Complication-related procedures and mortality rates were examined.
RESULTS: By August 2024, 230 participants received vosoritide (68 aged <5 years at treatment initiation [exposure, 289.1 person-years]; 162 aged ≥5 years at treatment initiation [exposure, 834.5 person-years]). Prevalence for most complications was consistent with or lower than NH rates. Incidence of leg malalignment; foramen magnum stenosis; spinal stenosis; kyphosis; lordosis; hydrocephalus; ear, nose, and throat complications; and pain was generally lower than NH rates. Foramen magnum decompression frequency was 3.0% overall (5.9% in participants who initiated treatment aged <2 years). Crude mortality was lower than NH rates.
CONCLUSION: Vosoritide was not associated with worsening of complications in children with achondroplasia and may reduce their frequency.