NEW: Materials from the European Commission for Rare Disease Day

To mark Rare Disease Day, the European Commission published several resources celebrating the dedication and expertise of the European Reference Networks that make a tangible difference to the lives of patients with rare diseases and their families. Check them out below!

EU delivering on rare diseases for patients and families

How the European Commission works for Rare Diseases and the European Reference Networks (ERNs)

European Reference Networks: A success story for patients living with rare disease

 

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NEW: Clinical Practice Recommendations for the Diagnosis and Treatment of X-linked hypophosphataemia

New evidence-based guidelines were recently published. Topics covered include:

Diagnosis of XLH Initial evaluation of the presence and severity of complications of |X-linked hypophosphaeaemia Definitions of responses to therapy in patients with X-linked hypophosphataemia Recommendations for follow-up of patients with X-linked hypophosphataemia Treatment of children and adult with X-linked hypophosphataemia Recommendations for management of burosumab in children Recommendations for management of oral phosphate and active vitamin D in children Recommendations for the prevention and managment of hyperparathyroidism Recommendations for recombinant human growth hormone Recommendations for musculoskeletal treatment Recommendations for managment of pregnant or lactating patients Recommendations for [...]

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CALL OPEN: DeCODe project call for support to assist devleopers of paediatric and orphan medical devices

This opportunity is open to a wide range of developers, including academics, individual researchers, startups, industry stakeholders, organisations from diverse settings, and patient-led initiatives. Support is available for both new device development and the adaptation of existing products to better serve paediatric and orphan populations.

 

Successful applicants will receive guidance from two dedicated innovation coaches to help advance their development goals. Assistance is offered across various stages of the product lifecycle, with tailored support in areas such as:

 

✔ Business and funding advice

✔ Network building

✔ Technical guidance

✔ Regulatory support

✔ Infrastructure for (pre-)clinical testing

✔ [...]

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REGISTER: Upcoming Workshops Patient Rights and Rare Diseases in the European Union

The European Commission is hosting workshops in several countries with a focus on patient rights in cross-border healthcare and European Reference Networks. Registration is now open for the Oradea covering Romania-Hungary workshop taking place 5 February 1000-1700 (EET).

Upcoming other events

28 February, 2025 Strasbourg

 

Contact DG Sante for more information.

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COMPLETE: Endo-ERN Transition of Care Working Group Survey

The Endo-ERN Transition of Care Working Group, invites you to complete this survey.

The survey aims to gather valuable insights into the current practices, challenges, and opportunities in managing the transition of care for patients with rare endocrine diseases, focusing on both pediatric and adult care perspectives.

Who should complete the survey?

Healthcare professionals directly involved in transition care for patients with rare endocrine conditions, from both pediatric and adult sides.

Time required: Approximately 15–20 minutes.

Dissemination Request

We kindly ask that the survey link be shared with all Endo-ERN members, including Reference Centres and associated [...]

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REGISTRATION: ERDERA 2025 Joint Transnational Call for Proposals Info Webinar and Resources

The European Rare Diseases Research Alliance (ERDERA) Joint Transnational Call (JTC) for Proposals 2025 is now open! Submissions are invited from research teams from across Europe and beyond to submit collaborative projects focused on “Pre-clinical therapy studies for rare diseases using small molecules and biologicals – development and validation”.

This JTC will build upon the significant progress made by previous European Joint Programme on Rare Diseases (EJP RD) calls, with the aim of fostering international partnerships to develop innovative therapies for rare diseases. National and regional funding bodies from over 30 countries, including France, Belgium, Germany, Italy, and all Baltic [...]

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POSTER WINNER: Endocrine Medicine Shortages

Endo-ERN ePAGs Johan de Graaf, Dutch Pituitary Foundation and Petra Brügmann (EMENA) with Endo-ERN colleague Emily White (Endo-ERN) and Dirk de Rijdt of the European Society Endocrinology prepared a poster Multistakeholder Mapping of Endocrine Medicine availability and shortages in Europe: Endo-ERN expert centres.

This poster was Best Poster at the European Rare Disease Research Coordination and Support Action consortium (#ERICA) at the first ERICA ERN Research Conference.

 

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WINNER: Best Presentation Award in the category Oral: Clinical Trials

Congratulations to Endo-ERN researcher Edward Visser, Erasmus MC: University Medical Center Rotterdam who won the Best Presentation Award in the category ORAL: CLINICAL Trials at the ERICA GA. The topic Thyroid hormone analogue (TRIAC) therapy for resistance to thyroid hormone in children.

The aim of the European Rare Disease Research Coordination and Support Action consortium (#ERICA), in which all 24 European Reference Networks (ERNs) take part, is to build on the strength of the individual ERNs and create a platform that integrates all ERNs research and innovation capacity.

ERICA hosted the first ERN Research Conference with a call to submit [...]

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REPORT & PRESENTATIONS: ERNs Evaluation Results Report

ERN members participate in an annual Continuous Monitoring exercise, and in 2023 there was the first 5-year evaluation process. The EU has recently published a report that “...presents the final and overall results of the evaluation exercise, as well as a comprehensive analysis of the strengths, areas for improvement and other barriers in both the ERN system and the evaluation methodology.”

24 European Reference Networks and 836 members completed their first evaluation. The evaluation concluded that the ERN ecosystem is functioning well, delivering on highly specialist work for rare disease patients such as consultations for diagnosis and terhapies, the [...]

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PREPARE: Continuous Monitoring 2025

As we approach the end of 2024, we also approach the next Continuous Monitoring exercise that will take place between January and February 2025.

Before the end of the year there are 2 key things every Endo-ERN member should check:

Is your e-REC up to date with all new patients recorded? e-Reporting of Rare Conditions (e-REC) (lumc.nl) Have you any other Endo-ERN activities to complete and be scored on? HCP Performance Member Advice – Endo-ERN

 

If you want support in any of this please contact our Endo-ERN project mailbox.

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