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.
Output
- 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.
Members of this Study Group
| Name | Expertise / Role | Country |
| PI*: Natasha Appelman-Dijkstra | internist-endocrinologist, EuRREB coordinator | the Netherlands |
| Daniele Tessaris | pediatric endocrinologist | Italy |
| Diana Ovejero Crespo | endocrinologist | Spain |
| Gerry Hazekamp | patient representative, FD/MAS Foundation | the Netherlands |
| Kassim Javaid | rheumatologist | UK |
| Magdalena Caballero Campos | patient representatives | Spain |
| Nerea Arrieta Urriategi | patient representatives | Spain |
| Oana Bulaicon | endocrinologist | the Netherlands |
| Pieter Bas de Witte | orthopaedic surgeon | the Netherlands |
| Roland Chapurlat | rheumatologist | France |
| Sophie Huisman | PhD student | the Netherlands |
| Stijn van der Meeren | ophtalmologist | the Netherlands |
For more information regarding the study or if you are interested to contribute to this study, please contact registries@lumc.nl.
*The Principal Investigator (PI) is the lead applicant responsible for submitting the data request and initiating the study.