Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.
Mohamad MaghnieOliver SemlerEncarna Guillen-NavarroAngelo SelicorniKaren E HeathGabriele HaeuslerLars HagenäsAndrea MerkerAntonio Leiva-GeaVanesa López GonzálezAdalbert RaimannMirko RehbergFernando Santos-SimarroDiana-Alexandra ErtlPernille Axél GregersenRoberta OnesimoErik LandfeldtJames JarrettJennifer QuinnRichard RowellJeanne PimentaShelda CohenThomas ButtRenée ShediacSwati MukherjeeKlaus MohnikePublished in: Orphanet journal of rare diseases (2023)
The findings of this study suggest that, across an individual's lifetime, achondroplasia is associated with multisystem complications, reduced QoL and functionality, and increased pain. These results highlight the large amount of healthcare resources that individuals with achondroplasia require throughout their lifespans and provide novel insights into current achondroplasia management practices across Europe. Trial registration ClinicalTrials.gov, NCT03449368, Submitted 14 December 2017 - prospectively registered, https://clinicaltrials.gov/ct2/show/record/NCT03449368.