Ahead of the upcoming workshop on 27th October 2022, 16:30 CET, Clinical Management Challenges in Infants and Young Children with Achondroplasia, EAF is undertaking two surveys to establish the challenges of managing achondroplasia in these age groups: one for parents of children with achondroplasia and one for clinicians.

This recent article presents the current and potential pharmacological treatments for achondroplasia, highlighting the advantages and disadvantages of all the drugs that have been demonstrated in human and animal studies in different stages of clinical trials.

The EAF is a network of specialists in achondroplasia management representative of the achondroplasia clinical community...

A recent study (published in November 2021 in the Orphanet Journal of Rare Diseases) investigates the prevalence, severity and type of hearing loss in Norwegian adults with achondroplasia. Recurrent otitis media infections, chronic middle ear effusion, and hearing loss are common in children with achondroplasia (about 70%) yet few studies have investigated hearing loss in adults with this condition.

The risk of adverse health outcomes in achondroplasia, from cardiovascular diseases, pain, poor function, excess weight, and sleep apnea is unclear. This multicenter retrospective natural history study works as a patient registry and was conducted in the US to understand medical and surgical practices in achondroplasia.

On June 25, 2021, the Committee for Human Medicinal Products (CHMP) of the European Medicines Agency, EMA, recommended the marketing authorisation of Voxzogo (trade name of vosoritide) in the European Union (EU)...