Description
The CLARITY results show a pattern of earlier diagnosis in modern patients, with the majority born in 2010 or later diagnosed prenatally or at birth. Over three-quarters have received surgery, and many have obstructive sleep apnoea. This natural history cohort represents an important reference population.
There are distinct yet highly variable skeletal manifestations in achondroplasia. For some people, these cause serious complications and require invasive surgical treatment. Yet despite recognition of these skeletal complications, understanding of their natural history is often limited to single cases, small case series, or uncontrolled observational studies. However, to be able to improve the quality of life of people with achondroplasia, there is a need to have a comprehensive understanding of the natural history.
CLARITY is a multicentre retrospective natural history study in 1374 children and adults with achondroplasia, with data going back to 1957. The aim is to understand medical practices, and to define common health risks and outcomes. Results show earlier diagnosis in modern patients, with 59.8% of subjects born in 2010 or later diagnosed prenatally or at birth. Overall, 79.6% have undergone at least one surgical intervention, and 38.4% have moderate-to-severe obstructive sleep apnoea. This cohort is an important reference population against which future medical and surgical interventions can be compared.
EU-ACH-00280
References:
Hoover-Fong JE, Alade AY, Hashmi SS, Hecht JT, Legare JM, Little ME, Liu C, McGready J, Modaff P, Pauli RM, Rodriguez-Buritica DF, Schulze KJ, Serna ME, Smid CJ, Bober MB Genet Med 2021;23(8):1498–1505