Description

Long-term, high-quality data are needed for this rare, multifaceted condition. Establishing registries that collect predefined data elements across age spans will provide contemporaneous prospective and longitudinal information and will be useful to improve clinical decision-making and management. Pooling data across countries will allow comparison of clinical outcomes associated with achondroplasia and different therapeutic approaches.

The EMEA achondroplasia Steering Committee comprises a multidisciplinary team of 17 clinical experts and 3 advocacy organization representatives. The committee undertook an exercise to identify essential data elements for a standardized prospective registry to study the natural history of achondroplasia and related outcomes.

A range of real-world experience on achondroplasia is being collected at EMEA centres. The topics considered most important for collection were auxological measures, sleep studies, QoL, and neurological manifestations. Whereas data considered essential for a prospective registry were grouped into six categories: demographics; diagnosis and patient measurements; medical issues; investigations and surgical events; medications; and outcomes possibly associated with achondroplasia treatments.