Assessing Outcomes in a New Era of Achondroplasia Treatment

As our understanding of achondroplasia progresses and new therapeutic options are developed, it is important to evaluate whether the tools we use in practice are still suitable to accurately assess outcomes.

During our Spring workshop Assessing Outcomes in a New Era of Achondroplasia Treatment Dr Melita Irving lead the discussion  with doctors Geneviève Baujat, Sérgio de Sousa and Antonio Leiva-Gea on whether current achondroplasia outcome measures are fit for purpose in the era of therapeutic management, therapeutic management in the real world, as well as the new treatment options in development.

Understanding Sleep Studies in Achondroplasia: Which? When? Why?

Workshop Video and Minutes Now Available!

There had been numerous unresolved questions in Advances in Achondroplasia concerning sleep studies, highlighting a gap in our collective knowledge in caring for individuals with achondroplasia. Consequently, we chose “Understanding Sleep Studies” as the theme for our last virtual workshop, held on Tuesday, October 24th. Chaired by Professor Brigitte Fauroux, we reviewed different types of sleep studies, their suitability, the importance of interpretation, and available treatment options for children and adults affected by sleep-disordered breathing due to achondroplasia.

EuRR-Bone Achondroplasia Module

Available since February 2022, the Achondroplasia Module of the European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) is open.

This module has been developed with experts from EAF and the European Reference Network for Rare Endocrine Conditions, ERN BOND, as well as patient representatives from throughout Europe. The disease specific module both collects clinician reported outcomes, including foramen magnum stenosis, and patient related outcomes. The registry is open for all those interested, you do not need to be part of the reference networks to start registering. Patients/carers can get access as well and are able to fill out the patient related outcomes themselves, which can be downloaded by the physician to include in the patient hospital files if desired. 

Clinicians: More information about the disease specific module and the tools used can be found here:

Patients and carers: please follow the link here:

More information about EuRR-Bone, including approved ethical protocols from various countries, our data access protocol and much more can be found here: 

Clinical Management Challenges in Infants and Young Children with Achondroplasia

Recording and Minutes Now Available!

Chaired by Encarna Guillen-Navarro, our esteemed faculty led some great discussions on the clinical challenges and outcomes of importance in infancy and early childhood, from both the healthcare professional and family perspective. There were some differences, and we discussed the potential reasons for these. Geert Mortier then led a review of the recommendations available in this age group and asked whether clinical practice is in alignment. You can watch the discussions and read our minutes from the meeting now!

Detection and Management of Foramen Magnum Stenosis in Achondroplasia

Recording and Slides Now Available!

Workshop Chair, Melita Irving, was joined by Klaus Mohnike, Geneviève Baujat, Paul Arundel, Philip Kunkel, and Heike Hoyer-Kuhn to discuss screening, indicators for intervention, the decision-making process to decompress and strategies for previously undetected foramen magnum stenosis. Consensus was reached on six guiding principles for the detection and management of foramen magnum stenosis.