ESPE2022 Poster Category 1 Bone, Growth Plate and Mineral Metabolism (46 abstracts)
Real-world data in children with achondroplasia after licensing of Vosoritide
Katja Palm 1 , Susanne Bechthold-Dalla Pozza 2 , Ruth Gausche 3 , Wolfgang Högler 4 , Heike Hoyer- Kuhn 5 , Angela Hübner 6 , Alexandra Keller 7 , Alice Mirante 8 , Klaus Mohnike 1,9 , Nicole Muschol 10 , Sean Nader 11 , Roland Pfäffle 3 , Friederike Quitter 6 , Tilmann Rohrer 12 , Frank Rutsch 13 , Dirk Schnabel 14 , Oliver Semler 15 , Isabel Silva 16 , Sérgio B. Sousa 16 , Thomas M.K. Voelkl 17 , Katja Wechsung 14 , Johannes Weigel 18 , Joachim Woelffle 19 & Ekkehart Lausch 20
1Department of Paediatrics, Magdeburg, Germany; 2Pediatric Endocrinology, Children’s Hospital Ludwig Maximilians University Munich, Munich, Germany; 3Pediatric Endocrinology, Children’s Hospital, University Leipzig, Leipzig, Germany; 4Department of Paediatrics, Johannes Kepler University Linz, Linz, Austria; 5Department of Pediatrics University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; 6Pediatric Endocrinology, Children’s Hospital, Universitätsklinikum, Technische Universität Dresden, Dresden, Germany; 7Children's Centre at Johannisplatz, Leipzig, Germany; 8Paediatric Endocrinology, Diabetes and Growth Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; 9Central German Competence Network for Rare Diseases (MKSE), Magdeburg, Germany; 10International Centre for Lysosomal Storage Diseases, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; 11Paediatric Orthopaedics, Schön Clinics Vogtareuth, Vogtareuth, Germany; 12Pediatric Endocrinology, Children’s Hospital, Saarland University Homburg, Homburg, Germany; 13University Children's Hospital, Münster, Germany; 14Center for Chronically Sick Children, Pediatric Endocrinology, Charité, University Medicine Berlin, Berlin, Germany; 15University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Pediatrics, Cologne, Cologne, Germany; 16Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; 17Pediatric Endocrinology, Children’s Hospital, Josefinum Augsburg, Augsburg, Germany; 18Pediatric Endocrinology, Pediatric Practice, Augsburg, Germany; 19Children’s Hospital, Friedrich-Alexander University Erlangen, Erlangen, Germany; 20Pediatric genetics, Children’s Hospital, University Freiburg, Freiburg, Germany
Background: Achondroplasia (ACH), caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), is characterized by severe growth failure and may be associated with multisystemic complications. The clinical phenotype is variable and relates to deformity of rhizomelic shortened legs, and myelon compression at cranial base and spine. Recent guidelines are published for diagnostic workflow, neurosurgical, orthopaedic and otorhinolaryngological interventions. Vosoritide, an analog of C-type natriuretic peptide, has been developed for the treatment of short stature in children with achondroplasia, and was approved by the EMA in August 2021 for ACH treatment. In a collaborative approach, we present epidemiological data characterizing the current practice of multidisciplinary treatment in Portugal, Austria, and Germany.
Patients: Medical history and clinical data were obtained routinely as standard of care from 575 children with ACH aged <17 years. Auxological data, safety of Vosoritide therapy and QoL data will be prospectively collected during routine visits. RESULTS: Since October 2021, Vosoritide had been started in 164 (29%) children: 80 aged 2-6y. (49%), 56 (34%) aged 7-11 y. and 28 (17%) aged >11y. At time of report in April 2022 all patients continued drug therapy. Related to the whole achondroplasia group 19% received a cranial decompression surgery and 8% limb lengthening.
Outlook: (1) To facilitate data collection, an achondroplasia-specific list of items has been inserted in the web-based registry CrescNet. (2) Prospective data acquisition by a multicenter approach aims to increase greater patient safety and longitudinal evaluation of treatment response.
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