This disease specific module is a joint project of the Rare Bone Disease action group of the European Calcified Tissue Society (ECTS), the European Reference Network for Rare Bone Disorders (ERN BOND) and the European Registries for Rare Bone and Mineral Conditions (EuRR-Bone). Melorheostosis module was launched January 2023.
ECTS-ERN BOND Melorheostosis study group:
- Prof Martine Cohen-Solal – Co-chair ECTS RBDAG- rheumatologist – Inserm U1132 Bioscar and université Paris-Cité Centre Viggo Petersen Hôpital Lariboisière, Paris, France
- dr Luca Sangiorgi – ERN BOND coordinator, Director of the Department: Rare Skeletal Diseases, Rizzoli Orthopaedic Institute, Italy
- Prof Bo Abrahamsen – ECTS board member -endocrinologist – University of Southern Denmark and Holbæk Hospital, Denmark
- dr Natasha Appelman-Dijkstra – endocrinologist, EuRR-Bone coordinator and WP5 lead ERN BOND, Leiden University Medical Center, The Netherlands
- dr Mariya Cherenko – EuRR-Bone/EuRRECa research fellow, Leiden University Medical Center, The Netherlands
- dr Gavin Clunie – rheumatologist – Nuffield Health Ipswich Hospital – Cambridge, United Kingdom
- dr Corinna Grasemann – endocrinologist – Consultant Pediatric Endocrinologist at Children’s Hospital Bochum, Bochum Germany
- Prof W.F. Lems – ECTS board member- rheumatologist – Amsterdam UMC, The Netherlands
- dr Ana Luisa Priego Zurita – EuRR-Bone/EuRRECa research fellow, Leiden University Medical Center, The Netherlands
- Prof Heide Siggelkow – ECTS board member -endocrinologist – MVZ ENDOKRINOLOGIKUM Göttingen, Germany
- Prof Carola Zillikens – endocrinologist – Erasmus Medical Center Rotterdam, The Netherlands
According to the ORPHAnet coding Melorheostosis falls under primary bone dysplasia with increased bone density (ORPHA93444) and to avoid large dropdown lists, the first registration within the Core registry is under this orphacode, after this the more detailed code can be chosen: Melorheostosis (ORPHA2485), Melorheostosis with osteopoikilosis (ORPHA1879), Buschke-Ollendorff syndrome (ORPHA1306) or Isolated osteopoikilosis (ORPHA166119). After entering the detailed diagnosis the Melorheostosis module appears automatically and is ready to use.
If you have questions or interest in joining the working group, please contact us on EuRR_Bone@lumc.nl
The full data dictionary can be downloaded here when available.
The modules should be updated every 12 months when patients are under active control. If not updates should be provided every 3 years. Of course additional data can be entered on demand. The Module requests a small amount of clinical data, information on pain (using BPI) and QoL (using MSK-HQ) these are available in different languages for the patient and for the clinician if needed as well. Next to the disease specific outcomes we collect EQ5D and mobility information on all patients with bone and mineral conditions, so please fill these out as well (or ask the patient to fill them out if they would like to participate).
PROMS can be requested automatically to the patient by the system and the clinician receives information when filled in.
Tools used in the module :