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

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.

Acceptance of gene therapy by the heart surgery patient.

Objective: The aim of the present study was to evaluate the attitude of cardiac surgery patients towards gene therapeutic approaches to heart disease.

Methods: One hundred and fifty patients having undergone coronary artery bypass grafting (n=97), valvular operations (n=40) or combined procedures (n=13) were personally interviewed prior to discharge using a self designed questionnaire.

Results: Seventeen percent of the surveyed patients were unable to complete the interview because of total non-understanding of the topic.