The CrescNet Registry Achondroplasia Module: Real-World Demographic Data and Clinical Outcomes in Untreated and Vosoritide-Treated Individuals

Mohnike K, Beger C, Gausche R, Hoyer-Kuhn H, Muschol N, Palm K, Rohrer TR, Sredkova M, Streata I, Wechsung K, Wölfle J, Zeman J, Eibenstein U, Pimenta JM, Reichert A, Pfäffle R (2026)

Publication Type: Journal article

Publication year: 2026

Journal

Hormone Research in Paediatrics Karger

Pages Range: 1-15

DOI: 10.1159/000550795

Abstract

Introduction: Achondroplasia is a rare skeletal dysplasia characterized by severe disproportionate short stature. Vosoritide is currently the only approved therapy. The CrescNet registry is a network of primary and specialized pediatric tertiary centers that aims to improve early detection of growth disorders in Europe. In 2021, an achondroplasia-specific data collection module was set up within CrescNet to enhance data collection among children with achondroplasia and assess the impact of interventions. Here, we describe the module setup and report preliminary real-world outcomes of vosoritide treatment over 3 years. Methods: The module was established in 10 of 11 countries participating in CrescNet. Achondroplasia-specific data were collected, including developmental milestones, interventions (such as limb-lengthening surgery, treatment with vosoritide, and growth hormone), complications, and health-related quality of life, alongside standard anthropometric measurements (e.g., height, weight, etc.). Pseudonymized data were sent to the CrescNet central database, Leipzig University Hospital, Germany, for analysis by age and treatment status. Results: As of May 2025, 486 participants from 32 tertiary centers were enrolled. Data from 73 untreated and 186 vosoritide-treated individuals with genetically documented achondroplasia were analyzed. In vosoritide-treated individuals, mean height standard deviation score, referenced to an untreated European achondroplasia population, significantly increased from baseline at 1, 2, and 3 years after vosoritide initiation (p ≤ 0.0001). Conclusion: The module facilitates the collection of real-world data to improve understanding of the natural history of achondroplasia and outcomes associated with interventions. Growth data from vosoritide-treated individuals were consistent with clinical trial findings and published real-world data. Longer term follow-up is ongoing.

Authors with CRIS profile

Joachim Wölfle Lehrstuhl für Kinder- und Jugendmedizin

Involved external institutions

Universitätsklinikum Magdeburg A.ö.R. DE Germany (DE) Universitätsklinikum Leipzig DE Germany (DE) Universitätsklinikum Hamburg-Eppendorf (UKE) DE Germany (DE) Universitätsklinikum des Saarlandes (UKS) DE Germany (DE) University of Medicine and Pharmacy of Craiova / Universitatea de Medicină şi Farmacie din Craiova RO Romania (RO) Berliner Institut für Gesundheitsforschung in der Charité / Berlin Institute of Health at Charité (BIH) DE Germany (DE) General University Hospital in Prague / Všeobecná Fakultní Nemocnice v Praze (VFN) CZ Czech Republic (CZ) BioMarin Pharmaceutical Inc. US United States (USA) (US) BioMarin (United Kingdom) GB United Kingdom (GB)

How to cite

APA:

Mohnike, K., Beger, C., Gausche, R., Hoyer-Kuhn, H., Muschol, N., Palm, K.,... Pfäffle, R. (2026). The CrescNet Registry Achondroplasia Module: Real-World Demographic Data and Clinical Outcomes in Untreated and Vosoritide-Treated Individuals. Hormone Research in Paediatrics, 1-15. https://doi.org/10.1159/000550795

MLA:

Mohnike, Klaus, et al. "The CrescNet Registry Achondroplasia Module: Real-World Demographic Data and Clinical Outcomes in Untreated and Vosoritide-Treated Individuals." Hormone Research in Paediatrics (2026): 1-15.

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