Emerging therapies for the treatment of rare pediatric bone disorders

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations


In recent years, new therapies for the treatment of rare pediatric bone disorders have emerged, guided by an increasing understanding of the genetic and molecular etiology of these diseases. Herein, we review three such disorders, impacted by debilitating deficits in bone mineralization or cartilage ossification, as well as the novel disease-modifying drugs that are now available to treat these conditions. Specifically, we discuss asfotase alfa, burosumab-twza, and vosoritide, for the treatment of hypophosphatasia, X-linked hypophosphatemia and achondroplasia, respectively. For each skeletal disorder, an overview of the clinical phenotype and natural history of disease is provided, along with a discussion of the clinical pharmacology, mechanism of action and FDA indication for the relevant medication. In each case, a brief review of clinical trial data supporting drug development for each medication is provided. Additionally, guidance as to drug dosing and long-term monitoring of adverse events and pediatric efficacy is presented, to aid the clinician seeking to utilize these novel therapies in their practice, or to become familiar with the healthcare expectations for children receiving these medications through specialized multidisciplinary clinics. The availability of these targeted therapies now significantly augments treatment options for conditions in which past therapy has relied upon less specific, symptomatic medical and orthopedic care.

Original languageEnglish
Article number1012816
JournalFrontiers in Pediatrics
StatePublished - Oct 11 2022

Bibliographical note

Funding Information:
Authorship funding was provided through endowments of the University of Kentucky Barnstable Brown Diabetes Center (to KT and JF) and, in part, by a grant from the National Institutes of Health, K08DK124566 (to EK). The authors of this manuscript were not involved in any capacity (i.e., clinical trial investigators, advisory consultants, participants in sponsored patient registries) in the development of the drugs presented in this review.

Publisher Copyright:
Copyright © 2022 Thrailkill, Kalaitzoglou and Fowlkes.


  • C-type natriuretic peptide
  • X-linked hypophosphatemia
  • achondroplasia
  • asfotase alfa
  • burosumab
  • fibroblast growth factor-23
  • hypophosphatasia
  • vosoritide

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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