We are pleased to share the publication of a new EuRREB article: “Developing a standard dataset in the European registries for rare endocrine and bone conditions – a Melorheostosis dataset”, now available in the Orphanet Journal of Rare Diseases on July 1, 2025.  Read the full publication here

Melorheostosis is an ultra-rare skeletal dysostosis with an estimated prevalence of 1 in 1,100,000. Due to its rarity, clinical knowledge and data are limited, making collaborative efforts essential. This publication represents a major milestone in the development of condition-specific, standardised datasets for rare bone conditions, facilitated by EuRREB in collaboration with the ECTS Rare Bone Disease Action Group and ERN BOND.

What was achieved

• An initial long list of clinical data elements was refined to a core dataset of 44 unique items specific to Melorheostosis.
• The dataset has been implemented in the EuRREB Core Registry platform as a condition-specific module.
• Since its introduction in January 2023, the dataset has already been used in clinical registration, offering insights into age distribution, anatomical involvement, and gender ratio in affected individuals.

Why is it important

• The dataset promotes data harmonisation and interoperability across national and European platforms.
• It provides a foundation for cross-border clinical research, registry-based studies, and long-term follow-up.
• It supports evidence generation for a better understanding of disease progression, management strategies, and quality of life in patients with Melorheostosis.

A collaborative effort

This project brought together: EuRREB, ECTS Rare Bone Disease Action Group, ERN BOND, and clinical experts from the Netherlands, France, Austria, Germany, and the UK.

It also aligns with broader efforts to strengthen infrastructure for rare endocrine and bone conditions across Europe.

What is next

This Melorheostosis dataset sets the stage for the development of similar modules for other rare bone and endocrine conditions. Continued collaboration will expand the registry network, refine data elements, and support future clinical studies.

Citation
Appelman-Dijkstra NM, Cherenko M, Clunie GPR, Funck-Brentano T, Grasemann C, Raimann A, Lems WFL, Cohen-Solal M.
Developing a standard dataset in the European registries for rare endocrine and bone conditions – a Melorheostosis dataset.
Orphanet J Rare Dis. 2025;20:331. https://doi.org/10.1186/s13023-025-03862-6