Metabolic Laboratory, Department of Paediatric Endocrinology and Diabetology with Endocrine, Medical University in Lublin, Prof. A. Gebala Street 6, 20-093 Lublin, Poland.
Int J Mol Sci. 2021 May 25;22(11):5573. doi: 10.3390/ijms22115573.
Achondroplasia (ACH) is a disease caused by a missense mutation in the (fibroblast growth factor receptor 3) gene, which is the most common cause of short stature in humans. The treatment of ACH is necessary and urgent because untreated achondroplasia has many complications, both orthopedic and neurological, which ultimately lead to disability. This review presents the current and potential pharmacological treatments for achondroplasia, highlighting the advantages and disadvantages of all the drugs that have been demonstrated in human and animal studies in different stages of clinical trials. The article includes the potential impacts of drugs on achondroplasia symptoms other than short stature, including their effects on spinal canal stenosis, the narrowing of the foramen magnum and the proportionality of body structure. Addressing these effects could significantly improve the quality of life of patients, possibly reducing the frequency and necessity of hospitalization and painful surgical procedures, which are currently the only therapeutic options used. The criteria for a good drug for achondroplasia are best met by recombinant human growth hormone at present and will potentially be met by vosoritide in the future, while the rest of the drugs are in the early stages of clinical trials.
软骨发育不全症（ACH）是由成纤维细胞生长因子受体 3 基因（fibroblast growth factor receptor 3，FGFR3）中的错义突变引起的疾病，是导致人类身材矮小的最常见原因。ACH 的治疗是必要且紧迫的，因为未经治疗的软骨发育不全症有许多并发症，既有骨科的也有神经系统的，最终会导致残疾。本综述介绍了目前用于治疗软骨发育不全症的药理学治疗方法，重点介绍了在不同临床试验阶段的人类和动物研究中已证明对所有药物的优缺点。本文还包括药物对除身材矮小以外的软骨发育不全症症状的潜在影响，包括它们对椎管狭窄、枕大孔狭窄和身体结构比例的影响。解决这些影响可能会显著提高患者的生活质量，有可能减少目前唯一的治疗选择——住院和痛苦的手术的频率和必要性。目前，重组人生长激素最符合软骨发育不全症的良好药物标准，而 vosoritide 在未来可能符合这一标准，而其余药物仍处于临床试验的早期阶段。
