Genetics of Achondroplasia Medication

Updated: Jan 10, 2022
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD  more...
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Medication

Hormones

Class Summary

Human growth hormone (HGH) has been used for more than 10 years to treat patients with achondroplasia. [32, 33, 34] A study of 35 children with achondroplasia showed an increase in growth velocity in the first 2 years of treatment with HGH and demonstrated the safety of HGH use for a 5-year period. [35]

Growth hormone, human (Nutropin, Genotropin, Humatrope)

HGH stimulates growth of linear bone, skeletal muscle, and organs. It also stimulates erythropoietin, which increases red blood cell mass.

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C-Type Natriuretic Peptide

Class Summary

In binding to natriuretic-peptide receptor B (NPR-B), CNP induces cyclic guanosine monophosphate (cGMP) synthesis. This inhibits the mitogen-activated protein kinase (MAPK) pathway, resulting in increased extracellular matrix (ECM), which, in conjunction with chondrocytes, serves as a template for bone via endochondral ossification. Achondroplasia results when the FGFR3 protein, due to a mutation in the encoding gene, becomes permanently active. By activating two intracellular signaling cascades, FGFR3 signaling reduces the proliferation and differentiation of bone growth plate chondrocytes, through the signal transducer and activator of transcription 1 (STAT1) pathway, and diminishes ECM production, through the MAPK pathway.

Vosoritide (Voxzogo)

Targeted at boosting linear growth, vosoritide is indicated for pediatric patients aged 5 years or older who have achondroplasia with open epiphyses.

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