Abstract：
UNASSIGNED: Achondroplasia is a heritable disorder of the skeleton that affects approximately 300,000 individuals worldwide. Until recently, treatment for this condition has been purely symptomatic. Efficacious treatment options for children are now approved or are in clinical trials.
UNASSIGNED: This review discusses key advances in the therapeutic management of children with achondroplasia, including vosoritide, the first approved drug, and other emerging precision therapies. These include navepegritide, a long-acting form of C-type natriuretic peptide, and infigratinib, a tyrosine kinase receptor inhibitor, summarizing trial outcomes to date.
UNASSIGNED: The advent of the first approved precision therapy for achondroplasia in vosoritide has been a paradigm shifting advance for children affected by this condition. In addition to changing their natural growth history, it is hoped that it will decrease their medical complications and enhance functionality. These new treatment options highlight the importance of prompt prenatal identification and subsequent testing of a suspected fetus with achondroplasia and counseling of families. It is hoped that, in the near future, families will have the option to consider a range of effective targeted therapies that best suit their child with achondroplasia, starting from birth should they choose.
UNASSIGNED: This review discusses key advances in the therapeutic management of children with achondroplasia, including vosoritide, the first approved drug, and other emerging precision therapies. These include navepegritide, a long-acting form of C-type natriuretic peptide, and infigratinib, a tyrosine kinase receptor inhibitor, summarizing trial outcomes to date.
UNASSIGNED: The advent of the first approved precision therapy for achondroplasia in vosoritide has been a paradigm shifting advance for children affected by this condition. In addition to changing their natural growth history, it is hoped that it will decrease their medical complications and enhance functionality. These new treatment options highlight the importance of prompt prenatal identification and subsequent testing of a suspected fetus with achondroplasia and counseling of families. It is hoped that, in the near future, families will have the option to consider a range of effective targeted therapies that best suit their child with achondroplasia, starting from birth should they choose.
摘要：
■软骨发育不全是一种骨骼遗传性疾病，影响全球约300,000人。直到最近,这种情况的治疗纯粹是对症治疗。针对儿童的有效治疗方案现已获得批准或正在进行临床试验。
■这篇综述讨论了软骨发育不全儿童治疗管理的主要进展，包括vosoritide,第一个被批准的药物,和其他新兴的精准疗法。这些包括navepegritide,C型利钠肽的长效形式,还有因菲替尼,酪氨酸激酶受体抑制剂，总结迄今为止的试验结果。
■第一个被批准的治疗vosoritide软骨发育不全的精确疗法的出现是受这种情况影响的儿童的范式转变。除了改变他们的自然生长历史，希望它将减少他们的医疗并发症并增强功能。这些新的治疗方案强调了及时产前鉴定和随后对疑似软骨发育不全胎儿进行检测以及家属咨询的重要性。希望,在不久的将来,家庭将可以选择考虑一系列最适合其软骨发育不全儿童的有效靶向疗法，从出生开始，他们应该选择。
■这篇综述讨论了软骨发育不全儿童治疗管理的主要进展，包括vosoritide,第一个被批准的药物,和其他新兴的精准疗法。这些包括navepegritide,C型利钠肽的长效形式,还有因菲替尼,酪氨酸激酶受体抑制剂，总结迄今为止的试验结果。
■第一个被批准的治疗vosoritide软骨发育不全的精确疗法的出现是受这种情况影响的儿童的范式转变。除了改变他们的自然生长历史，希望它将减少他们的医疗并发症并增强功能。这些新的治疗方案强调了及时产前鉴定和随后对疑似软骨发育不全胎儿进行检测以及家属咨询的重要性。希望,在不久的将来,家庭将可以选择考虑一系列最适合其软骨发育不全儿童的有效靶向疗法，从出生开始，他们应该选择。
