Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare and complex condition caused by somatic variants in the GNAS gene, leading to a wide clinical spectrum. The diagnostic process and therapeutic pathways vary across centers, highlighting the need for international harmonization of data collection.
Objective
To understand the diagnostic pathways and clinical outcomes of patients with FD/MAS reported on an electronic-reporting tool (e-REC) across European centers, aiming to guide the development of a condition-specific module within the European Registries for Rare Endocrine and Bone Conditions.
Publications
- Developing a Standardised Dataset for Natural History Studies in Fibrous Dysplasia/McCune-Albright Syndrome Calcified Tissue International (DOI 10.1007/s00223-025-01379-5, 2 May 2025)
For more publications see our publication page.Â
Members of this Study Group
| Name(s) | Expertise / Role | Organisation |
|---|---|---|
| Lead:Â Natasha Appelman-Dijkstra | internist-endocrinologist, EuRR-Bone coordinator | Leiden University Medical Center, the Netherlands |
| Roland Chapurlat | rheumatologist | INSERM, France |
| Gaby Doxiadis | patient representative | Dutch FD/MAS foundation, the Netherlands |
| Kassim Javaid | rheumatologist | NDORMS, University of Oxford, UK |
| Diana Ovejero Crespo | endocrinologist | Hospital del Mar, Barcelona, Spain |
| Daniele Tessaris | pediatric endocrinologist | Regina Margherita Children’s Hospital, Italy |
| Nerea Arrieta Urriategi Magdalena Caballero Campos |
patient representatives | Fibrous Dysplasia, Spain |
| Oana Bulaicon | endocrinologist | Leiden University Medical Center, the Netherlands |
| Lothar Seefried | orthopedic surgeon | University Hospital at the Julius-Maximilians University, Germany |
For more information regarding the study or if you are interested to contribute to this study, please contact registries@lumc.nl.