ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions

Casareto, Lorena; Appelman-Dijkstra, Natasha M.; Brandi, Maria Luisa; Chapurlat, Roland; Cormier-Daire, Valérie; Hamdy, Neveen A.T.; Heath, Karen E.; Horn, Joachim; Mantovani, Giovanna; Mohnike, Klaus; Sousa, Sérgio Bernardo; Travessa, André; Wekre, Lena Lande; Zillikens, M. Carola; Sangiorgi, Luca

doi:10.1016/j.ejmg.2024.104916

Cited by 3 publications

References 9 publications

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The Role of the European Reference Network for Rare Bone Diseases (ERN BOND) and European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) in the Governance of the Management of Rare Bone and Mineral Diseases

Priego Zurita,

Boarini,

Casareto

et al. 2024

Calcif Tissue Int

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Rare diseases (RDs) bear a significant challenge to individuals, healthcare systems, and societies. The European reference network on Rare BONe diseases (ERN BOND) is committed to improving multidisciplinary, patient-centred care for individuals with rare bone and mineral diseases (RBMDs). Its affiliated project, the European registries for rare bone and mineral conditions (EuRR-Bone) collects data using two different platforms, an electronic surveillance system (e-REC) that captures the occurrence of RBMDs and the Core Registry, a platform with the infrastructure for collecting Core data fields and longitudinal generic and condition-specific information. With emerging registries and the overlap with other ERNs, it is key to maintain the capability of the platforms to adapt to the needs of the network and the community whilst adhering to quality and FAIR (findable, accessible, interoperable, and reusable) principles. This binomial ensures long-term sustainability and potential advances in the care pathway of RBMDs whilst promoting good practice standards within Europe and beyond.

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The Role of the European Reference Network for Rare Bone Diseases (ERN BOND) and European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) in the Governance of the Management of Rare Bone and Mineral Diseases

Priego Zurita,

Boarini,

Casareto

et al. 2024

Calcif Tissue Int

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Rare bone diseases: Recent progress?

Mercier-Guery,

Chapurlat

2024

Reference Module in Biomedical Sciences

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Project SATURN– a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies

Sangiorgi,

Boarini,

Westerheim

et al. 2024

Orphanet J Rare Dis

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Regulatory marketing authorisation is not enough to ensure patient access to new medicinal products. Health Technology Assessment bodies may require data on effectiveness, relative effectiveness, and cost-effectiveness. Healthcare systems may require data on clinical utility, savings, and budget impact. Furthermore, the exact requirements of these bodies vary country by country and sometimes even region to region, resulting in a patchwork of different data requirements to achieve effective, reimbursed patient access to new therapies. In addition, clinicians require data to make informed clinical management decisions. This requirement is of key importance in rare diseases where there is often limited data and clinical experience at the time of regulatory approval.This paper describes an innovative initiative that is called Project SATURN: Systematic Accumulation of Treatment practices and Utilization, Real world evidence, and Natural history data for the rare disease Osteogenesis Imperfecta. The objective of this project is to generate a common core dataset by utilising existing data sources to meet the needs of the various stakeholders and avoiding fragmentation through multiple approaches (e.g., a series of individual national requests/approaches, and unconnected with the regulators’ potential requirements). It is expected that such an approach will reduce the time for patient access to life-changing medications. Whilst Project SATURN applies to Osteogenesis Imperfecta, it is anticipated that the principles could also be applied to other rare diseases and reduce the time for patient access to new medications.

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ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions

Cited by 3 publications

References 9 publications

The Role of the European Reference Network for Rare Bone Diseases (ERN BOND) and European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) in the Governance of the Management of Rare Bone and Mineral Diseases

The Role of the European Reference Network for Rare Bone Diseases (ERN BOND) and European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) in the Governance of the Management of Rare Bone and Mineral Diseases

Rare bone diseases: Recent progress?

Project SATURN– a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies

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