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Review
. 2017 Apr;15(2):53-60.
doi: 10.1007/s11914-017-0347-2.

Current Care and Investigational Therapies in Achondroplasia

Sheila Unger  1 , Luisa Bonafé  2 , Elvire Gouze  3
Affiliations
Review

Current Care and Investigational Therapies in Achondroplasia

Sheila Unger et al. Curr Osteoporos Rep. 2017 Apr.

Abstract

Purpose of review: The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe.

Recent findings: Despite several attempts to standardize care, there is still no widely accepted consensus. This is in part due to absence of concrete data on the incidence of sudden unexplained death in infants with achondroplasia and the best investigation for ascertaining which individuals could benefit from foramen magnum decompression surgery. In this review, we identify the different options of care and management for the various orthopedic, neurologic, and respiratory complications. In parallel, several innovative or drug repositioning therapies are being investigated that would restore bone growth but may also prevent complications. Achondroplasia is the most common non-lethal skeletal dysplasia. It is characterized by short stature and a variety of complications, some of which can be quite severe. Despite several attempts to standardize care, there is still no widely accepted consensus. This is in part due to absence of concrete data on the incidence of sudden unexplained death in infants with achondroplasia and the best investigation for ascertaining which individuals could benefit from foramen magnum decompression surgery. In this review, we identify the different options of care and management for the various orthopedic, neurologic, and respiratory complications. In parallel, several innovative or drug repositioning therapies are being investigated that would restore bone growth but may also prevent complications.

Keywords: Achondroplasia; Biotherapies; Clinical management; FGFR3; Treatment.

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Conflict of interest statement

Conflict of Interest

Sheila Unger and Luisa Bonafé declare no conflicts of interest.

Elvire Gouze has a patent licensed and is the scientific founder of TherAchon.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

Figures

Fig. 1
Fig. 1
Timelines of the different complications occurring in achondroplasia patients
Fig. 2
Fig. 2
a MRI image of a four and a half year old boy showing a narrow foramen magnum. This finding is seen in almost all children with achondroplasia and is not by itself an indication to perform neurosurgery. b X-ray showing the typical configuration of the lumbar spine in achondroplasia with shortening in the AP diameter and scalloping if the posterior endplates. More significant shortening of the first lumbar vertebra is also a risk factor for developing a fixed kyphosis and would be an indication for treatment by bracing
Fig. 3
Fig. 3
Schematic representation of FGFR3-mediated inhibition of bone growth in achondroplasia (a) and of the sFGFR3 decoy strategy (b)
See this image and copyright information in PMC

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