ESPE2023 Poster Category 1 Bone, Growth Plate and Mineral Metabolism (46 abstracts)
Multidisciplinary approach in achondroplasia – real world experience after drug approval of vosoritide
Philip Kunkel 1 , Maesa Al Halak 2 , Susanne Bechthold-Dalla Pozza 3 , Corinna Grasemann 4 , Alexandra Keller 5 , Nadine Muschol 6 , Sean Nader 7 , Katja Palm 8 , Simone Poetzsch 9 , Tilman Rohrer 10 , Frank Rutsch 11 , Dirk Schnabel 12 , Thomas Voelkl 13 , Bjoern Vogt 14 , Katja Wechsung 12 , Johannes Weigel 15 , Joachim Woelfle 16 , Roland Pfaeffle 17 , Ruth Gausche 17 , Christoph Beger 17 & Klaus Mohnike 8
1Pediatric Neurosurgery, Children’s Hospital University Mannheim, Mannheim, Germany. 2Soziopediatric Centre of the Clinics of Upper Bavaria, Neuropediatrics, KBO Kinderzentrum Munich, Munich, Germany. 3Pediatric Endocrinology, Children’s Hospital Ludwig Maximilians University Munich, Munich, Germany. 4Center for rare diseases Ruhr (CeSER), Bochum, Germany. 5Pediatric Endocrinology, Kinderzentrum am Johannisplatz, Leipzig, Leipzig, Germany. 6International Centre for Lysosomal Storage Diseases, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. 7Paediatric Orthopaedics, Schön Clinics Vogtareuth, Vogtareuth, Germany. 8Dept. Pediatrics, Otto von Guericke University Magdeburg, Magdeburg, Germany. 9Children’s Hospital, Helios Clinic Plauen, Plauen, Germany. 10Pediatric Endocrinology, Children’s Hospital, Saarland University Homburg, Homburg/Saar, Germany. 11Pediatric Endocrinology Children’s Hospital, University Muenster, Muenster, Germany. 12Center for Chronically Sick Children, Pediatric Endocrinology, Charité, University Medicine Berlin, Berlin, Germany. 13Pediatric Endocrinology, Children’s Hospital, Josefinum Augsburg, Augsburg, Germany. 14Paediatric Orthopaedics, University Muenster, Muenster, Germany. 15Pediatric Endocrinology, Pediatric Practice, Augsburg, Augsburg, Germany. 16Children’s Hospital, Friedrich-Alexander University Erlangen, Erlangen, Germany. 17Pediatric Endocrinology and CrescNet, Children’s Hospital, University Leipzig, Leipzig, Germany
Background: Achondroplasia (Ach) is a rare growth disorder caused by a point mutation in the fibroblast growth factor receptor 3 gene that results in dysproportionate extreme short stature and can lead to a wide range of multisystemic complications throughout the individual's life with reduced quality of life. In the past, orthopaedic and neurosurgical therapies have been developed to partially improve mobility, reduce pain and prevent neurological disability. With the discovery of new causative drugs, a better knowledge of the natural history of achondroplasia is essential to plan the healthcare resources required by individuals with achondroplasia throughout their lives.
Methods: A multidisciplinary working group together with representatives from 3 European patient associations developed a diagnosis-specific data set for patients with achondroplasia. These elements were integrated into a patient registry platform, CrescNet®, which has been established at the University of Leipzig for more than 20 years to monitor auxological, laboratory and treatment data in real time. Paediatricians, endocrinologists and hospitals entered data from > 1,000,000 children with various conditions.
Results: Currently, 259 (132 female) individuals with achondroplasia have been entered by 16 centres. n=17 in the age group <2 years, n=169 in the age group 2-15 years and n=74 > 15 years. A cranial MRI was performed in n=94 to exclude or diagnose cranio-cervical compression. An AFMSS score of 1 was diagnosed in 29, AFMSS 2 in 24, AFMSS 3 in 23 and AFMSS 4 in 14 children. Decompression surgery was performed in 19 patients at a mean age of 1.73 years. Bone age (Greulich/Pyle) was documented in n=110, with bone age below chronological age in 105 (mean bone age of 8.8 years at chronological age of 9.9 years). In n=85, treatment with Vosoritide was started at a mean age of 6.92 years (SD: 3.54) and so far documented for 1.23 years (SD: 0.75). Using achondroplasia-specific reference data (Merker et al., 2018), an increase of 0.45 H-SDS was confirmed, which is consistent with data from clinical trials. Conclusions: The established CrescNet® registry can be used to evaluate the long-term outcome of a rare disease. It allows to monitor the frequency of multisystemic complications, e.g. AFMSS, and the use of health care resources. In Ach, 37 out of 93 (=40%) showed significant cranio-cervical compression of AFMSS 3-4. Visual bone age determination (VAD) showed delayed BA in 105/110 Ach subjects. An increase of 0.45 H-SDS was observed after the first year of vosoritide treatment.
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