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

Current Care and Investigational Therapies in Achondroplasia.

Author information

1
Service of Genetic Medicine, Lausanne University Hospital (CHUV), Av. Pierre-Decker 2, 1011, Lausanne, Switzerland.
2
Center for Molecular Diseases, Service of Genetic Medicine, Lausanne University Hospital (CHUV), Av. Pierre-Decker 2, 1011, Lausanne, Switzerland.
3
Institute de Biologie Valrose, University. Nice Sophia Antipolis, Batiment Sciences Naturelles; UFR Sciences, Parc Valrose, 28 avenue Valrose, 06108, Nice, Cedex 2, France. elvire.gouze@inserm.fr.

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

PMID:
28224446
PMCID:
PMC5435778
DOI:
10.1007/s11914-017-0347-2
[Indexed for MEDLINE]
Free PMC Article

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