The ASBMR 2025 Annual Meeting will take place from September 5–8, 2025, at the Seattle Convention Center, Seattle, Washington, USA. This meeting is the world’s leading international forum for bone, mineral and musculoskeletal research, bringing together more than 2,500 participants from over 50 countries, including clinicians, researchers, advocacy groups, patient organisations and healthcare professionals.

The program will feature around 100 scientific sessions and close to 1,000 poster presentations, covering a wide range of advances from fundamental science to clinical applications. A key highlight is the ASBMR/RBDA Pre-Meeting Symposium on Rare Bone Diseases: From the Genome to the Lived Experience, scheduled for September 4, 2025, which will focus on how cutting-edge science and the lived experience of people with rare bone conditions can converge to shape better care, research, and innovation.

ERBF contribution

The European Rare Bone Forum (ERBF) will be represented at this meeting through the participation of Catherine Nester, ERBF Board and Steering Group member. She will present a scientific poster entitled: “Accelerating Research and Development for Rare Bone Conditions in Europe: A Multistakeholder Call-to-Action.” ANDO Portugal, as a member of ERBF, played a key role in its realization, collaborating in the authorship of the abstract, submission, and preparation of the presentation and graphics of the poster.

This presentation is directly connected to the important work that ERBF has been leading since 2022, namely the development of a white paper addressing the challenges faced in research for rare bone conditions (RBCs). The white paper proposes concrete solutions to overcome barriers in the research and development (R&D) pathway and serves as a call to action to all RBC stakeholders — including patient organisations, healthcare professionals, researchers, industry, and policymakers.

The ERBF white paper was developed in collaboration with Costello Medical and highlights the need for collaborative, cross-sector approaches to accelerate research and bring meaningful impact to people living with rare bone conditions. Through this participation at the ASBMR 2025 Annual Meeting, ERBF strengthens its commitment to ensuring that the voices and needs of the rare bone community in Europe are represented in the global scientific arena.

It was officially launched during the Joint Congress of the European Society of Paediatric Endocrinology (ESPE) and the European Society of Endocrinology (ESE) on 11 May 2025.

Read the full white paper here: Research and Development of Treatments for Rare Bone Conditions in Europe

Stay tuned to learn more and to be updated on our work on Rare Bone Conditions.

Visit the European Rare Bone Forum for more news and information on Rare Bone Conditions here

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The European Rare Bone Forum (ERBF) is proud to announce the publication of its latest white paper: “Research and Development of Treatments for Rare Bone Conditions in Europe”, developed in collaboration with Costello Medical. This landmark document outlines key challenges and opportunities in advancing therapies for rare bone conditions (RBCs), and calls for stronger cross-sector collaboration, policy support, and investment in R&D.

The white paper was officially launched during the Joint Congress of the European Society of Paediatric Endocrinology (ESPE) and the European Society of Endocrinology (ESE) on 11 May 2025. Representing the ERBF and ANDO Portugal, Inês Alves presented the white paper and emphasized the need for a coordinated European strategy to improve diagnosis, treatment access, and innovation in this underrepresented field.

This white paper is the result of a multi-stakeholder collaboration, bringing together patients, clinicians, researchers, and industry representatives. It highlights the barriers to effective treatment development—such as data fragmentation, limited patient registries, and a lack of targeted funding—and proposes concrete recommendations to drive progress.

Read the full white paper here: Research and Development of Treatments for Rare Bone Conditions in Europe

Stay tuned to learn more and to be updated on our work on Rare Bone Conditions.

Visit the European Rare Bone Forum for more news and information on Rare Bone Conditions here

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The European Rare Bone Forum (ERBF) is proud to announce its participation in the upcoming ESPE-ESE Joint Congress 2025, a leading event bringing together experts in pediatric and adult endocrinology.

At 12:40 CET on 11 May, ERBF will present its recently published white paper titled: “Research and Development of Treatments for Rare Bone Conditions in Europe”

This important work, developed in collaboration with Costello Medical, provides a comprehensive overview of the current challenges, gaps, and opportunities in advancing therapies for rare bone diseases across Europe. This document offers an in-depth analysis of the current landscape of research and innovation in the field of rare bone diseases. It identifies key barriers to the development of effective therapies, highlights disparities in access to care across Europe, and outlines actionable recommendations to accelerate progress through policy, funding, and multi-stakeholder collaboration.

The presentation will be delivered by Inês Alves, representing both ERBF and ANDO Portugal, who will highlight key findings and strategic recommendations to improve patient outcomes and foster collaboration across the rare bone community. We invite all attendees to join this session and take part in the conversation shaping the future of rare bone disease research and innovation.

This session is an important milestone in ERBF’s mission to advance research, drive awareness, and support the development of life-changing treatments for people affected by rare bone conditions.

Learn more about the congress: ESPE-ESE Joint Congress 2025
Take a look at the Congress Programme
Read about ERBF’s initiatives: www.rarebone.org

Stay tuned to learn more and to be updated on our work on Rare Bone Conditions.

Visit the European Rare Bone Forum for more news and information on Rare Bone Conditions here

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Rare Bone Diseases (RBDs) represent a heterogeneous group of 771 rare conditions of genetic origin that affect the development, growth, and structure of bones and cartilage, causing short stature and abnormalities of the limbs, extremities, and spine. A recently published article called Improving care pathways for people living with rare bone diseases intends to outline the priorities for people with these conditions.

During the Rare Bone Disease Summit — which took place in December 2021 — key aspects were discussed and proposals to overcome the challenges and improve the lives of people living with Rare Bone Diseases were presented. This article provides an overview of the key points from this meeting, summarises the subsequent action plan, and discusses the next steps in this continued collaboration. Here are the most important points of the article:

Common challenges in RBDs

Diagnostic Delay

Key unmet needs were identified and diagnostic delay was considered to be a major challenge for patients, their families, and care providers. This delay is related to a lack of awareness of RBDs among healthcare professionals (HCPs), with many, including specialists, not recognizing concerning presenting features that should arouse suspicion of RBDs.

What causes this lack of awareness?
According to the article, “insufficient inclusion of materials related to RBDs in medical school curricula, limited HCP interest and time, a lack of perceived interest from the pharmaceutical industry, and time constraints on HCPs educational and patient-facing time were identified as critical factors that may contribute to poor understanding of RBDs by HCPs. In addition, an absence of appropriate assessment tools or guidelines may also impede a timely, accurate diagnosis.”

Some of the features that were identified during the summit are shown in Fig. 1:

Patient care pathway

According to the article’s authors, “once diagnosed, patients should be on a pathway to receive specialized and personalized care, and dedicated support. However, many aspects of the patient care pathway were highlighted as challenges for patients and caregivers. Primary care physicians are not always aware of how to refer patients or who to refer them to. In addition, in underserved communities, a specialist referral could mean costly journeys or be hampered by language barriers. This lack of effective and timely referrals leaves patients stuck in a diagnostic limbo, during which they do not receive appropriate care nor support“.

The importance of a multidisciplinary team (MDT)
A lack of awareness of the importance of a MDT, and the absence of RBD experts in many countries and regions, can also result in a barrier to care. This is particularly prevalent during the transition from pediatric to adult and adult to geriatric care. “These transitions were described, almost universally, as poor; many patients and caregivers bravely becoming their own care coordinators, while others fall behind into an unsupported path.” It was also identified as a priority the need for RBD referral networks, informing how to refer patients and the location of specialized care centers (SCCs).

Patient-HCP communication

Communication can be challenging for patients and care providers. Patients have difficulty understanding medical terminology, knowing which problems are most relevant/urgent, and expressing how they are feeling. Some have reported feeling like it is their responsibility to explain their diagnosis to physicians to ensure continuation of their own care. However, communication difficulties are bidirectional. Examples of the identified communication gaps are highlighted in Fig. 2:

Cultural differences

The stigma that some communities still hold towards RBDs, mainly because of their physical effects on people, is also an obstacle. As the article points out, “families may hide their children from society and doctors for fear of being excluded“. In these communities there are less patient support groups and “the quality/amount of information they provide also vary around the world, increasing inequalities and leaving many patients feeling isolated or uninformed“.

Overcoming Barriers

Categories of activities to overcome barriers to optimal RBD care

In the article, four main categories of activities that can help overcoming barriers in RBD care were identified and listed. Proposed actions were split in terms of priority: those that could be actioned in the short-term (2022/2023) and those that would be more long-term goals (2024 and beyond). You can find the table here.

The future
The next RBD Summit will focus on aspects that will contribute towards the long-term goal of improving the lives of patients and emphasise the importance of continued collaboration of HCPs, societies, patients and patient organisations, pharmaceutical organisations, and independent medical education providers, in RBDs as well as other therapeutic areas.

This text was based on:
Chandran, M., Alves, I., Carpenter, T. et al. Improving care pathways for people living with rare bone diseases (RBDs): outcomes from the first RBD Summit. Osteoporos Int (2023). https://doi.org/10.1007/s00198-023-06791-x

Find the complete article here.

Stay tuned to learn more and to be updated on our work on Rare Bone Conditions.

Visit the European Rare Bone Forum for more news and information on Rare Bone Conditions here

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ECTS-ISCBH workshop in conjunction with the European Rare Bone Forum

We are pleased to announce that we will be participating in the ECTS Congress 2023 in Liverpool. The European Rare Bone Forum will be moderating an ECTS-ISCBH Workshop on April 14, 2 pm (GMT+1). The European Rare Bone Forum will be represented by Inês Alves (ERBF Steering group member, President of ANDO Portugal and patient representative at the ERN BOND). You can find the more about this session here.

The European Calcified Tissue Society (ECTS) and Bone Research Society (BRS) join forces to provide a unique platform for sharing the most relevant and cutting-edge science and innovation in calcium, bone and mineral metabolism in Europe. Aiming to provide excellent learning and networking opportunities to basic, translational and clinical scientists, specialists, trainees and allied health professional.

ECTS 2023 will be the 60th iteration of this annual congress. The event is a five-day congress, taking place between 14-18 April 2023 and the ECTS-ISCBH workshop in conjunction with the European Rare Bone Forum takes place on Friday the 14th of April.

Stay tuned to learn more and to be updated on our work on Rare Bone Conditions.

Visit the European Rare Bone Forum for more news and information on Rare Bone Conditions here

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“How to overcome research barriers on rare bone conditions” will be the main topic of our Sponsored Educational Symposium at the ECTS Congress 2022 — 8th May | 13.30 | Auditorium 101.

The whole research process entails various steps and demands collaboration. Researchers, clinicians and patients often encounter multi-level barriers in the development and/or execution process.

How to overcome these obstacles is an ongoing challenge. Involving a multi stakeholder group, we will debate on how to overcome them , prioritizing real needs. For more information, please visit the ECTS website here.

Meet the Speakers:

Chair

Stay tuned to learn more and to be updated with the latest news about the ERBF Sponsored Educational Symposium and participation in the congress.

Visit the European Rare Bone Forum for more news and information on Rare Bone Conditions here

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ERBF Education Symposium and General Meeting at ECTS 2022

We are pleased to announce that we will be participating in the ECTS Congress 2022 in Helsinki. We will sponsor an Education Symposium and the European Rare Bone Forum General Meeting will also take place during the event.

Stay tuned to learn more and to be updated with the latest news concerning our participation in the congress.

Visit the European Rare Bone Forum for more news and information on Rare Bone Conditions here

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The European Registry for Rare Bone and Mineral Conditions (EuRR-Bone) was created by Experts on rare bone and mineral conditions and patient representatives in 2020. This project works closely with the European Registry for Rare Endocrine Conditions (EURRECa) and the European Reference Networks for Rare Bone and Rare Endocrine Conditions and includes:

• An e-reporting program (e-REC) that captures new clinical encounters
• A centralised Core registry
• Disease-specific modules on Achondroplasia, Fibrous Dysplasia/McCune Albright syndrome, Osteogenesis Imperfecta and Rare Hypophosphatemia.

EuRR-Bone and EuRRECa are surveying patients and clinicians to better understand the needs of the bone and endocrine community regarding Patient Reported Outcome Measures (PROMs). PROMs are used in clinical practice to obtain reports from patients about their health and well-being.

The survey is available until January 31 and results will help decide which generic PROMs to add to the clinician and patient registry platform.

Choose what suits you and Take the EuRR-Bone PROMs survey

Visit the European Rare Bone Forum (ERBF) for more news and information on Rare Bone Conditions here

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A recently published study entitled Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions(1), with the participation of Inês Alves from ANDO Portugal (Patient Group Representative of the European Rare Bone Forum), highlights the importance of understanding the natural history of rare bone and mineral conditions to improve clinical practice and the development of new diagnostics and therapies(2). Additionally, the article also states that recruitment and long-term participation in registries are key challenges for researchers.

In brief, the European Patient Advocacy Group (or ePAGs) of the European Reference Network for Rare Bone Diseases — ERN BON(3) works together with other patient organisations, clinicians, experts and researchers for the development of the European Registry for Rare Bone and Mineral Diseases, which provides networks for learning and research collaboration between industry, scientific researchers, regulators, clinicians, patient organisations and families.

In the end, these registries provide an understanding of the natural history of diseases (especially rare ones) in terms of the type and severity of complications, progression, impact on quality of life, risk-benefit ratio and other clinical parameters, and are essential for improving people’s treatment pathways and the development of new diagnostics and therapies.

How was the study conducted?

In order to understand user needs, the European Reference Network for Rare Bone Diseases – ERN BOND(3) and the European Patient Advocacy Groups developed and implemented a multinational survey on the content and functionality of the database of choice for participants, through an iterative consensus process. The survey was disseminated by national and international patient and health professional groups, and results were analysed using descriptive statistics and multivariate regression.

What were the results?

There were 493 responses from 378 adults, 15 children and 100 parents, guardians or carers (PTCs) with 22 different rare bone and mineral conditions. The survey was conducted online in several languages, first released in English and then translated and proofread by native speakers of Czech, French, Dutch, Estonian, German, Italian, Portuguese and Swedish.

Results to note:

• Content on anxiety and socialisation scored the lowest
• Additional content was recommended by 205 respondents
• Respondents preferred data entry by their healthcare provider (HCP)
• Less than 50% of adults received follow-up care from their HCP at least annually
• 29% of adults responded that they were followed as needed

Table 1 — Rare bone and Mineral condition type of respondent

Table 2 — Interest in the features of the proposed database

Findings

• This survey of individuals, their families, guardians and carers prioritised key components to create a research database for rare bone and mineral conditions in the European Union.
• The survey highlights issues related to the collection of psychosocial impacts as well as an analysis of levels of trust in the health care provider.
• The survey showed that only visits to specialised centres for data collection, although preferred by patients, will be insufficient for a substantial number of people, limiting generalisation.
• Combined healthcare provider and patient platforms will be needed to collect representative and complete natural history data for this patient group.

Know more about the ERBF Members, Mission and visit our website: rarebone.org

References

1. Javaid MK, et al. Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions. Orphanet J Rare Dis. 2021;16(1):463. Published 2021 Nov 3. doi:10.1186/s13023-021-02069-9
2. Administration USFaD. Rare Diseases: Natural History Studies for Drug Development—Draft Guidance. In: Office of Medical Products and Tobacco OoSMP, Office of Orphan Products Development, Office of Medical Products and Tobacco, Center for Drug Evaluation and Research, Office of Medical Products and Tobacco, Center for Biologics Evaluation and Research, editor. 2019.
3. Heon-Klin V. European Reference networks for rare diseases: what is the conceptual framework? Orphanet J Rare Dis. 2017;12(1):137. doi: 10.1186/s13023-017-0676-3.

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