Journal Article

Real-world evidence in achondroplasia: considerations for a standardized data set

AlSayed, Moeenaldeen, Cormier-Daire, Valerie, Appelman-Dijkstra, Natasha M., Maghnie, Mohamad, Noval, Susana, Gregersen, Pernille Axél, Breyer, Sandra, Mohnike, Klaus, Sigaudy, Sabine, Irving, Melita, Ben-Omran, Tawfeg, Högler, Wolfgang, Popkov, Dmitry, Pimenta, Jeanne, Mukherjee, Swati, Selicorni, Angelo, Baujat, Genevieve, Sabir, Ian, Alanay, Yasemin, Guillén-Navarro, Encarna, Alves, Inês, Nilsson, Ola, Cohen, Shelda, Semler, J. Oliver, Sessa, Marco

2023

Overview

Background Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability, and reuse of digital assets, and that captures long-term, high-quality data, would improve understanding of the natural history of achondroplasia, quality of life, and related outcomes. Methods The Europe, Middle East, and Africa (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. Results A range of RWE on achondroplasia is being collected at EMEA centres. Whereas commonalities exist, the data elements, methods used to collect and store them, and frequency of collection vary. The topics considered most important for collection were auxological measures, sleep studies, quality of life, and neurological manifestations. 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. Conclusions 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. It should be feasible to collect a minimum dataset with the flexibility to include country-specific criteria and pool data across countries to examine clinical outcomes associated with achondroplasia and different therapeutic approaches.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Achondroplasia / Achondroplasia - epidemiology / Age groups / Analysis / Care and treatment / Clinical medicine / Complications and side effects / Data collection / Decision making / Europe / Genetic aspects / Genetic variation / Growth / Health aspects / Human Genetics / Humans / Kinases / Medical research / Medicine / Medicine & Public Health / Natural history / Online assets / Orthopedics / Pharmacology/Toxicology / Position Statement / Quality of Life / Rare disease / Rare diseases / Real-world data / Real-world evidence / Registries / Registries/ Health Planning/ Health Services / Registry / Sleep disorders