Tofts Louise, Ireland Penny, Tate Tracy, Raj Supriya, Carroll Theresa, Munns Craig F, Knipe Stephen, Langdon Katherine, McGregor Lesley, McKenzie Fiona, Zankl Andreas, Savarirayan Ravi
Health and Human Sciences, Macquarie University, Macquarie Park, Sydney, NSW 2109, Australia.
Queensland Children's Hospital, South Brisbane, QLD 4101, Australia.
Children (Basel). 2024 Jun 28;11(7):789. doi: 10.3390/children11070789.
Achondroplasia, the most prevalent skeletal dysplasia, stems from a functional mutation in the fibroblast growth factor receptor 3 gene, leading to growth impairment. This condition presents multifaceted medical, functional and psychosocial challenges throughout childhood, adolescence and adulthood. Current management strategies aim to minimise medical complications, optimise functional capabilities and provide comprehensive supportive care. Vosoritide (trade name: VOXZOGO, BioMarin Pharmaceuticals) is the first disease-modifying pharmaceutical treatment approved for the management of patients with achondroplasia and became available in Australia in May 2023.
Standardised clinical guidelines for its optimal use are not yet widely available. To address this gap, a multidisciplinary Australian Vosoritide Working Group, comprising 12 experts with experience in achondroplasia management from across Australia, developed recommendations to guide the use of vosoritide in clinical practice.
The recommendations, which are expert opinions of the Australian Vosoritide Working Group, aim to (i) standardise the use of vosoritide across Australia, (ii) support the safe clinical rollout of vosoritide and (iii) support universal access.
These recommendations have been developed for healthcare professionals and institutions that are engaged in using vosoritide in the management of achondroplasia and will be revised using a formal framework for clinical guideline development once more evidence is available.
软骨发育不全是最常见的骨骼发育不良疾病，由成纤维细胞生长因子受体3基因的功能性突变引起，导致生长障碍。这种疾病在儿童期、青少年期和成年期都会带来多方面的医学、功能和社会心理挑战。目前的管理策略旨在尽量减少医学并发症，优化功能能力，并提供全面的支持性护理。伏索瑞肽（商品名：VOXZOGO，BioMarin制药公司）是首个被批准用于治疗软骨发育不全患者的疾病修正药物，于2023年5月在澳大利亚上市。
关于其最佳使用的标准化临床指南尚未广泛可得。为填补这一空白，一个由来自澳大利亚各地12位具有软骨发育不全管理经验的专家组成的多学科澳大利亚伏索瑞肽工作组制定了建议，以指导伏索瑞肽在临床实践中的使用。
这些建议是澳大利亚伏索瑞肽工作组的专家意见，旨在（i）在澳大利亚规范伏索瑞肽的使用，（ii）支持伏索瑞肽在临床中的安全推广，以及（iii）支持普遍可及性。
这些建议是为从事使用伏索瑞肽治疗软骨发育不全的医疗专业人员和机构制定的，一旦有更多证据，将使用正式的临床指南制定框架进行修订。
