Description

This SLR provides a comprehensive overview of the current burden and treatment landscape for achondroplasia, along with areas where evidence is lacking. The results highlight that achondroplasia has substantial burden in terms of patient HRQoL, burden on caregivers and economic burden on healthcare systems and individuals.

This project aimed to identify HRQoL utilities, healthcare resource use, costs, efficacy, safety, and economic evaluation data in ACH, and to identify gaps in the research. Searches of MEDLINE, Embase, the University of York Centre for Reviews and Dissemination, the Cochrane Library and grey literature were performed. Articles were all screened against
pre-specified eligibility criteria by 2 individuals. Study quality was assessed using published checklists, and additional targeted searches were conducted to identify management guidelines.

59 unique studies were included. Results demonstrated a substantial HRQoL and HCRU/cost-related burden of achondroplasia on affected individuals and their families throughout their lifetimes, particularly in emotional wellbeing and hospitalisation costs and resource use. Vosoritide▼, growth hormone (GH) and limb lengthening all conferred benefits for height or growth velocity, however, the long-term effects of GH therapy were unclear, data for vosoritide were from a limited number of studies, and limb lengthening was associated with complications. Management guidelines included were widely varied in their scope, with the first global effort to standardise achondroplasia management represented by the International Achondroplasia Consensus Statement published at the end of 2021. Current evidence gaps include a lack of utility and cost-effectiveness data for ACH and its treatments.

There is a need for further research to inform best practice for ACH management, which should aim to relieve clinical, humanistic, and economic burdens. This review should be updated as new evidence becomes available on emerging therapies.