28 February is Rare Disease Day! With thousands of events taking place in over 100 countries, there are countless ways to get involved and raise awareness. From attending a webinar or conference to posting on social media, today is a chance to show your support for the rare disease community.
As part of the lead-up to Rare Disease Day 2023, EURORDIS’s annual Black Pearl Awards were held in Brussels last week on 21 February. More than 400 people attended from 34 countries, including patients, healthcare professionals, industry leaders, and policymakers. The event has been held every year since 2012, and recognises the contributions of key actors in making a difference for the rare disease community.
This year, the Member Award was given to the organisation Orphan Diseases of Ukraine, in recognition of their policy-making work as well as their tireless efforts to coordinate a response to the needs of Ukrainian rare disease patients following the invasion and subsequent outbreak of war in early 2022.
In addition to the awardees mentioned in previous issues of OrphaNews, laureates of the three Company Awards were announced ahead of the event.
The Company Award for Patient Engagement went to Amryt Pharma, for their patient-focused approach to clinical trials and close collaboration with young patients.
PTC Therapeutics’ long history of meaningful collaboration and pioneering status in rare disease research earned them the Company Award for Innovation.
The Company Award for Health Technology was awarded to Mendelian, thanks to their clinician-led approach to implementing a rare disease detection technology in primary care settings.
At the Awards themselves, Nicole Faccio was awarded the Social Media Award as voted for by members of the rare disease community. Born with WILD syndrome, she uses her presence on social media to share what her life looks like living with primary lymphedema. Her goal is to improve awareness and education among the general public and medical community, while providing inspiration for others with the same disorder.
The EURORDIS Lifetime Achievement Award was bestowed upon Terkel Andersen, who was President of the organisation for almost 20 years until stepping down in 2022. He has extensive experience advocating for rare diseases at both the national and European levels, and continues to serve on EURORDIS’s Board of Directors.
Finally, results from the vote for the Photo Award were announced. This year’s winner was “Raising Rare,” photographed by Lindsay Norman from the USA. Shown below, the photo depicts Blakely, who was born at 26 weeks and terminally diagnosed with Mucolipidosis type 2.
All money raised through the Awards will go towards Rare Disease Day. Visit the links below to watch the event recording, and to learn more about the awards and this year’s awardees.
On 8 February, patient advocates and policymakers from across Europe gathered at the European Parliament for a discussion about the evolution of the Orphan Medicinal Products Regulation and the rare disease community’s unmet needs that it needs to address. Currently, about 95% of people living with rare diseases lack access to any form of transformative treatment. The conference, co-hosted by EURORDIS and Frédérique Ries MEP, sought to present the perspectives of a wide range of experts while fostering a space for honest conversation with participants.
The ongoing revision of the Regulation presents a unique opportunity to amend the existing legislation in a way that continues to drive innovation while improving the accessibility of treatment for people living with rare diseases. Speakers asserted the importance of promoting Europe as a global pioneer in drug development, while ensuring that medicines remain accessible to those who need them. They also discussed the need for intervention by regulators earlier on in the drug development process, in order to better support clinical trial design and ensure that a greater number of drugs in development actually make it to the market authorisation stage.
Additionally, EURORDIS took the opportunity to once more present their proposal for the revision. These focus on prioritising the transformation of Europe’s research and development landscape for rare diseases; positioning the EU as a competitive arena for drug development; and ultimately, ensuring that the needs and participation of people living with rare diseases are kept at the heart of the revised Regulation.
The event took place within the framework of Rare Disease Week 2023, a four-day programme organised by EURORDIS meant to give patient advocates the tools they need to take action at the European level. In addition to the conference, participants had the opportunity to meet with Members of the European Parliament and representatives from the European Commission and the next Spanish Presidency of the EU Council.
The ERN GUARD-Heart has launched a new weekly podcast series where members have the opportunity to share their experiences and challenges in the field of rare cardiac diseases with a junior colleague. Listen to the first episode to hear a discussion between Elena Arbelo and Angela Lopez from Hospital Barcelona.
From 20-22 April 2023, the ERN ReCONNET will be hosting the first International Congress on rare and low-prevalence connective tissue diseases in Brussels, Belgium. The congress is meant for a variety of participants including specialists, patients, caregivers, and policy makers, and has been developed to integrate the perspectives of a wide range of stakeholders. Registration is open now!
ERNICA’s next research collaboration webinar will be held on 8 March. The latest instalment in the series will provide an overview of concepts such as patient-reported outcomes, quality of life, and health-related quality of life. The particular importance of these concepts for research will also be discussed.
The ERN TransplantChild will be hosting a webinar on 11 April, discussing issues related to paediatric kidney transplantation and vaccination. The discussion will be led by Dr Zivile Bekassy, and can be accessed at the link below.
Together with the European Academy of Neurology, ERN-RND and ERN EURO-NMD are co-hosting a webinar titled "Towards precision medicine in NBIA." The event will take place on 7 March 2023 at 3pm CET, and is to be delivered by Professor Manju Kurian of the GOS Institute of Child Health, University College London.
The latest webinar in the ERN-RITA’s Tuesday Lunch with RITA series will be held on 7 March 2023 at 12pm CET. It will present a discussion of best practices for treating AAV by Prof Dr Benjamin Terrier. A recording will be made publicly available afterwards for those unable to attend live.
In collaboration with TREAT-NMD, EURO-NMD will be hosting their 5th Neuromuscular Translational Summer School from 10-14 July 2023 in Leiden, Netherlands. The Summer School will present lectures about the management of neuromuscular diseases, drug development, and patient communication and engagement.
Orphanet's annual user survey is now a month underway. Users are invited to fill it out in the pop-up that appears when visiting the website.
From 19-20 January 2023, a training session titled “Orphanet Nomenclature Training” was held by Orphanet and Acıbadem University as part of the training activities of the ISTisNA project. The training occurred within the scope of the EJP-RD and supported by the European Union Horizon 2020 Program.
Members of the Orphanet coordinating team and Orphanet Turkish national team discussed how to use the Orphanet portal, its clinical applications, and challenges that have arisen in translating the nomenclature.
