Abstract
Achondroplasia (ACH) is a disease caused by a missense mutation in the FGFR3 (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.
Highlights
Achondroplasia is a genetic disorder that belongs to a large group of SDs that results in a disproportionate body structure and short stature
In 2016, selected tyrosine kinase inhibitors were compared in terms of selectivity for the FGFR3 receptor as well as their possible use in the treatment of achondroplasia, and the results indicated that NVP-BGJ398 was the best candidate
Investigations into Recombinant human growth hormone (rhGH) and vosoritide are the most advanced. Even if these treatments are cleared for widespread use, they will not cure all the symptoms associated with achondroplasia
Summary
Achondroplasia is a genetic disorder that belongs to a large group of SDs (skeletal dysplasias) that results in a disproportionate body structure and short stature. According to the current classification of SDs, achondroplasia is a member of group 1. It is caused by a mutation in the FGFR3 (fibroblast growth factor 3 receptor) gene on chromosome 4p16.3, a mutation that is spontaneous in 80% of cases [3]. The frequency of this mutation notably increases when the father is over 35 years old [4]. The disease is inherited in an autosomal dominant manner and is characterized by full penetration, which means that every patient with a copy of the mutated FGFR3 gene will exhibit phenotypic characteristics of achondroplasia
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