Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.

ABSTRACT:

Background

Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify the burden of achondroplasia among individuals across a broad range of ages, including adults.

Methods

Demographic, clinical and healthcare resource use data were collected from medical records of achondroplasia patients enrolled in 13 sites across six European countries in this retrospective, observational study. Descriptive statistics or event rates per 100 person-years were calculated and compared across age groups as well as by history of limb lengthening. Patient-reported outcomes (quality of life [QoL], pain, functional independence,

SUBMITTER: Maghnie M 

PROVIDER: S-EPMC10015810 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature