Edition of 11 February 2025

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Editorial

Get ready for Rare Disease Day 2025!

As we head into February, the rare disease community is gearing up to celebrate Rare Disease Day 2025 on 28 February. Coordinated by EURORDIS, this yearly event is a key moment when all members of the community can make their voices heard and add momentum to important advocacy work.

Groups around the world are organising events for their local rare disease communities. To learn more about events happening near you, take a look at the ‘Events Near You’ tab in your local language on the Rare Disease Day website. You can also help build awareness online by posting your own photos and experiences under the hashtag #RareDiseaseDay, or by sharing a range of downloadable resources, available in a number of languages.

To kick off the festivities, EURORDIS is hosting their annual Black Pearl Awards on 24 February in Brussels, Belgium and online. These awards are meant to honour key actors in the rare disease field who are driving positive change, with awardees being announced weekly leading up to the ceremony. So far, the following awardees have been named:

Dr Pauline Evers, Volunteer Award: Dr Evers is the former policy officer at the Dutch Federation of Cancer Patient Organisations, specialising in the fields of medicinal products, and accessibility of innovative therapies. This award recognises her volunteer work with EURORDIS over the past two decades, particularly as a patient representative on the EMA’s Committee for Orphan Medicinal Products (COMP).
Latvian Alliance of Rare Diseases, Members Award: The Latvian Alliance of Rare Diseases has received this award in recognition of the large scale and impact of their recent national and international advocacy initiatives.
Dr Violeta Stoyanova-Beninska, Leadership Award: Through multiple different leadership positions, Dr Stoyanova-Beninska has been fundamental in advancing rare disease policy and legislation, particularly as Chair of the EMA’s COMP and of IRDiRC’s Regulatory Science Committee.
Stella Kyriakides, Policy Maker Award: As the European Commissioner for Health and Food Safety (2019-2024), Stella Kyriakides oversaw a number of important initiatives such as the creation of the European Health Data Space and the overhaul of the EU Pharmaceutical Strategy. This award recognises her dedication to the rare disease cause, and her attentiveness to the unmet needs of EU citizens with rare diseases.
Jane Velkovski, Young Advocate Award: Jane is a student and avid football fan who is actively advocating for the rights of people with disabilities and rare diseases as a wheelchair user living with spinal muscular atrophy. This award recognises his tireless efforts to raise awareness through participation in UNICEF disability campaigns, speeches at high-profile international events, and his TED talk on “The life-changing power of assistive technologies.”
#UNIAMOleforze, Media and Awareness Raising Award: UNIAMO is a non-governmental federation of more than 200 rare disease patient associations in Italy. This award honours their #UNIAMOleforze campaign for Rare Disease Day 2024, which continued their 26 year-long commitment to advocacy by encouraging thousands of people to join a dedicated fantasy game league and generating millions of impressions.
Ultragenyx and Mereo BioPharma, Company Award for Patient Engagement: Utragenyx and Mereo BioPharma are being honoured for their understanding of high unmet needs and their attentiveness to patients as equal partners in advancing solutions for communities with scarce treatment options.
No Isolation, Company Award for Health Technology: The Norwegian company No Isolation is being recognised for their creation of a telepresence robot, ‘AV1’, which connects children to classroom activities and helps combat loneliness and anxiety in children with serious, long-term illnesses which prevent them from attending school.

Individual Black Pearl Awardees to date (via EURORDIS)

Alongside the awardees announced ahead of the ceremony, two awards will be determined by a public vote and announced on the night of the ceremony. The Photo Award invited members of the public to submit photos which share their rare disease stories, from which five finalists will be chosen. Online voting on the finalists will open on 10 February. Voting is also currently open for the Social Media Award, which celebrates advocates and influencers whose content amplifies the voices of the rare disease community. You can learn more about the 4 finalists and cast your vote for this award here. Voting for both awards will close ahead of the awards ceremony on 24 February.

Spotlight

Final results of Solve-RD published in flagship paper

The flagship paper of the Solve-RD project has been published in Nature Medicine, describing how the project was able to deliver a diagnosis to more than 500 patients through genetic reanalysis.

Solve-RD was a 5.5-year project, funded by the European Commission from 2018-2023, which aimed to identify the underlying molecular causes of undiagnosed rare diseases. Led by researchers from the University of Tübingen, Radboud University Medical Center, and the National Center for Genomic Analysis (CNAG) in Barcelona, the consortium brought together 300 experts from 12 European countries and Canada in order to deliver answers to people living with an undiagnosed disease and their families.

During Solve-RD’s mandate, the project reanalysed existing genome data from 6,447 patients and 3,197 unaffected family members. From this group, a diagnosis was able to be delivered to 506 patients, 15% of whom thus obtained access to additional options for disease treatment and management. For those who received a diagnosis which did not come with actionable understandings, patients and their families nevertheless gained clarity on their condition and put an end to the diagnostic odyssey.

The great success of the Solve-RD project demonstrates the power of large-scale collaboration and pooling of expertise to improve the diagnostic process for rare diseases. Its work on this front is being carried forward and expanded on by the new European Rare Disease Research Alliance (ERDERA), which is based on Solve-RD’s two-level expert review framework. While Solve-RD may be over, its efforts to accelerate diagnosis of rare disease patients will inform ERDERA’s work as the initiative strives to scale-up genetic reanalysis and the use of advanced diagnostic techniques.

ERN News

Optimising patient partnership in ERNs: Learning from existing frameworks

A scoping review conducted by ERN members and representatives from EURORDIS was recently published in the Journal of Community Genetics which investigates existing frameworks for patient partnerships with healthcare professionals. The findings from this study will inform future updates to the ERN Patient Partnership Framework, ultimately serving to promote meaningful, inclusive patient partnership within the unique context of ERNs.

Within the rare disease community, as in healthcare more generally, there has been a growing shift towards building a culture of patient-clinician partnership, where patient representatives and healthcare professionals are considered equal partners. This approach allows for the leveraging of the experiential knowledge held by patients, and ensures that their interests are kept at the centre of all aspects of care.

In this spirit, the ERN Patient Partnership Framework was developed under EURORDIS’ leadership in 2023. This study sought to identify existing frameworks which focus on patient partnership in the context of the core ERN activities and isolate key learning points, which can be applied to continually improve and reinforce the ERN framework. The results identified four principles which are relevant to the ERN context:

Use and promote the definition of ERN patient partnership: Patients and healthcare professionals as equal partners in the selection of appropriate engagement approaches
Strive for meaningful patient partnership that is outcome and/or value based
Consider diversity and context to ensure patient partnership is both meaningful and inclusive
Foster a culture of continuous improvement by actively addressing framework evaluation and implementation

In addition to informing future updates of the ERN Patient Partnership Framework, this study helps foster a culture of continuous improvement within ERNs in their collaborations with patients. By remaining flexible and constantly striving to build on ongoing efforts, the networks are working to ensure that patients have a voice in the most inclusive and meaningful way possible.

Recent scientific publications by ERNs

Recently, a number of scientific articles have been published by various ERNs which may be of interest to our readers. Below you will find a list of these articles, along with a short summary of each:

ERKNet: Clinical Practice Recommendations on Dent Disease

These recommendations, published in Nephrology Dialysis Transplantation, were developed by the ERKNet Working Group on Metabolic Disorders, in collaboration with the ESPN Working Group on Inherited Disorders. They provide a comprehensive summary of the current knowledge on the diagnosis and management of Dent Disease, acting as a valuable resource to guide clinicians. A video is also available, highlighting the key messages and recommendations from this document.

eUROGEN: Complex decision making for individual patients with penile cancer: Benchmarking divergent practices in European high-volume reference centers

This study draws on the results of a survey conducted by eUROGEN to shed light on the complexities of managing penile cancer in high-risk cases, and the variation in treatment approaches across European reference centers. It assesses practices related to immunotherapy, systemic regimen preferences, the integration of next-generation sequencing (NGS), and other treatment modalities.

RITA: Recommendations for transitioning young people with primary immunodeficiency disorders and autoinflammatory diseases to adult care

This research paper, published in the Journal of Clinical Immunology, discusses strategies for optimising the transition of young patients with primary immunodeficiency diseases and autoinflammatory diseases. It includes guidelines on programme structure, collaboration with social systems, and safe care transfer in order to standardise and improve health outcomes for patients across Europe.

VASCERN: Hereditary haemorrhagic telangiectasia

This article, published in Nature Reviews Disease Primers, provides a comprehensive overview of hereditary haemorrhagic telangiectasia. It includes an overview of existing knowledge on underlying causes, clinical signs, and recent advances in treatment.

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