The combination of newborn screening, care pathway and respective therapies led to a major breakthrough for rare diseases in this study: “Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy”.
The study was conducted in the German expert centers Hannover and Tübigen over the period of nearly 2 years. By using a three-tiered screening strategy 3 of over 100.000 newborn infants were screened positive for MLD and received treatment in accordance with the proposed care pathway.
Patient Journeys are practical quick overviews that guide you through the stages of a rare neurological disease. But do you know how patient journeys are developed? From the first draft made by a patient advocate over surveys and evaluations by clinicians – a patient journey is a lot of work.
How exactly this development process looks like and which ways of disseminating we are focusing on – listen to EURORDIS new episode of ERNs on Air (episode 6) and find out: https://www.eurordis.org/rare-on-air/
We are happy to announce that the ERN-RND Annual Meeting 2024 will be held in Ljubljana, Slovenia, on 10-11 October 2024. We expect one representative of each HCP to be present in Ljubljana. Additionally, online participation will be open to as many colleagues from ERN-RND as possible.
We are happy to announce that our 100th webinar on rare neurological diseases will be held tomorrow at 15 CEST and you can still register!
Willeke van Roon-Mom will be talking about “Genetic therapies and therapy developments for rare movement disorders”. Don’t miss it – registration is free!
We are looking forward to meeting you at this year’s EAN Congress: come and visit us at our booth N27 and don’t miss our Scientific Theatre on Dystonia and Huntington’s Disease on July 1st at 16:25 EEST (Neurohood Hall).
Join also our (N)Euro-Café or take a picture at our photo booth “Shine Light on the Invisible” (N28) – our common activities with EFNA and the ERNs epiCARE and EURO-NMD.
Read now our newly published paper on “Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network” by Aleš Maver, Katja Lohmann, Fran Borovečki, Nicola Wolstenholme, Rachel L. Taylor, Malte Spielmann, Tobias B. Haack, Matthias Gerberding, Borut Peterlin & Holm Graessner in the European Journal of Human Genomics.
In the past decade, next-generation sequencing (NGS) has revolutionised genetic diagnostics for rare neurological disorders (RND). However, the lack of standardised technical, interpretative, and reporting standards poses a challenge for ensuring consistent and high-quality diagnostics globally. To address this, the European Reference Network for Rare Neurological Diseases (ERN-RND) collaborated with the European Molecular Genetics Quality Network (EMQN) to establish an external quality assessment scheme for NGS-based diagnostics in RNDs. The scheme, initiated in 2021 with a pilot involving 29 labs and followed by a second round in 2022 with 42 labs, aimed to evaluate the performance of laboratories in genetic testing for RNDs. Each participating lab analysed genetic data from three hypothetical cases, assessing genotyping, interpretation, and clerical accuracy. Despite a majority of labs using exome or genome sequencing, there was considerable variability in gene content, sequencing quality, adherence to standards, and clinical guidance provision. Results showed that while most labs provided correct molecular diagnoses, there was significant variability in reporting technical quality, adherence to interpretation standards, reporting strategies, and clinical commentary. Notably, some labs returned results with the potential for adverse medical outcomes. This underscores the need for further harmonisation, guideline development, and external quality assessment in the evolving landscape of genomic diagnostics for RNDs. Overall, the experience with the scheme highlighted the generally good quality of participating labs but emphasised the imperative for ongoing improvement in data analysis, interpretation, and reporting to enhance patient safety.
“Getting coordinated care is not a pipe-dream. It is a reality in Innsbruck and can be a reality in other places” (Patient Advocate from ERN-RND)
The question our ePAG asked ourselves in January of 2024: What does good care look like? We thought it wise to visit an Expert Center to learn about the expertise and the standards that they provide to patients. We identified a center that covered all of the representative diseases in the ERN-RND. We then decided on the questions we wanted answered.
On 24 May, the ePAG of the ERN-RND left their mark in Innsbruck, where they visited Dr. Sylvia Boesch and her team -at the Center for Rare Movement Disorders Innsbruck (CRMDI) in the Medical University Innsbruck.
Dr. Matthias Amprosi, part of the neurology team at the CRMDI made a presentation, which covered the majority of the questions we sent them prior to our visit. We learned about the clinic and how many patients they see and help per year. We learned about studies that are currently in progress. We learned that there are also organizational, nursing and physiotherapy teams, as well as social workers, all of whom are exclusively assigned to the Department of Neurology. We then saw that in action.
We visited the physiotherapy center where you learn skills while you’re having fun. For example, you can use the h/p/ cosmos fitness trainer for gait analysis while watching a screen in front of you and stepping over objects “in your way.” You can play Wii Fit or, you can use the tyromotion to train fine motor skills by copying a simple drawing.
We also met a 24-year-old male with Friedreich’s Ataxia, who was being advised by his doctors about appropriate jobs because the social welfare office isn’t familiar with that disease and cannot offer advice.
Our ePAG had this to say about the visit: “The presentation of the center’s entry into the ERN was amazing and it was so interesting to see how they work with the ERN network and understand the mutual benefits. It was also interesting to get an overview and to learn about the studies that are in progress at the moment. The implementation of rehabilitation, research and training into the clinical units is impressive. This is a forward-leaning and enthusiastic staff. Also impressive is the holistic approach, in both physiotherapy and in Sylvia’s approach of taking very good care of her patients.”
To thank Dr. Bösch for the visit, the patient representatives gave her a zebra figurine as a symbol of rare diseases: “When one hears hoofbeats, it isn’t necessarily a horse, it can be the much rarer zebra.”
What is equally impressive is how well this ePAG works together. We genuinely like each other and have spent time developing our professional relationship for the benefit of all the people we represent.
Report written by Lori Renna Linton, member of the ERN-RND European Patient Advocacy Group (ePAG)
Our 5th Winter School will be a Spring School this year and will focus on Deep Brain Stimulation in Dystonia. It will be held online from April 17 to 19, 2024.
The registration is not open yet, but you can already have a peek at the Preliminary Programme:
17 April 2024 I Indications and Diagnosis
Isolated Dystonia (inherited, idiopathic)
Infancy Dystonia
Combined Dystonia
Botulinum toxin: opportunities & limitations
Drug therapy and neurorehabilitation: opportunities & limitations
18 April 2024 I How to do DBS/ Neurosurgery
Neurosurgery aspects of DBS in Dystonia (including alternative targets (STN, VOA, VIM))
Specific aspects of DBS in paediatric Dystonia
MER and LFP-signals for implantation and programming in Dystonia patients
Neuroimaging for implantation and programming in Dystonia patients
The ERN-RND cordially invites coordinators and project managers of all ERNs to join our annual ERN coordinators and project managers meeting 2023. The meeting takes place in Bilbao (Spain) on 09 and 10 October 2023, right before the EESC Conference 2023.
Accommodation and travel costs are not covered by the ERN-RND and have to be covered by each ERN. For accomodation recommendations please check the EESC accommodation flyer.
You will have the possibility to meet your colleagues face-to-face. The meeting enables you to discuss present achievements and future work of the ERNs as well as to share experience. You‘ll also have the chance to get support with specific needs and challenges within your ERN.
The European Reference Network representatives and people living with a rare disease across Europe, call on the EU institutions and EU Member States’ governments to stand by the European Reference Networks and to uphold their commitment to enable long-lasting impact in people’s lives and, fundamentally, give all people living with a rare or complex condition in Europe the same opportunities to access timely and adequate specialised healthcare
In particular, ERNs ask for
Secure long-term financial stability
Designate Affiliated Partners and expand the disease coverage
Support greater cross-ERN collaboration
Establish treatment eligibility and molecular therapeutic panels
Fully integrate ERNs into national health system services
Urgently define and systematically collect and monitor health and experienced-based outcome measures
Better support and recognition of the contribution of volunteer patient organisations, patient representatives, healthcare providers and clinicians in the Networks
The Solve-RD consortium and associated European Solve-RD network, including among others six European Reference Networks, EURORDIS, Orphanet and leading European Rare Disease Clinicians and Researchers in 20 countries, call upon all European RD stakeholders, including EU Member States, the European Commission, the Council of the European Union, the general public and private organisations active in the RD field, as well as the rare disease community at large to act NOW to seize the current once-in-a-generation opportunity to significantly improve RD diagnosis in Europe.
This unique opportunity is characterized by pan-European access to diagnostic technologies in particular Whole Exome Sequencing, the just reached maturity of the European Refence Networks ecosystem, the looming opportunity to share RD data on European-wide scale within the forthcoming European Health Data Space, the upcoming RD-Partnership as well as – with Solve-RD – the availability of a scalable transnational diagnostics research platform.
Solve-RD has summarized the critical action points here.
The 35th Annual Meeting EACD “to be held between 24 – 27 May 2023 in Ljubljana, Slovenia, hosted by University Rehabilitation Institute Republic of Slovenia.
The motto of this EACD annual meeting is “Smarter Goals for Better Future”, with the intent to emphasize the importance of goal setting in all processes of care in the rehabilitation of children and youth. The program in Ljubljana will be divided into five main thematic modules:
The importance of timely intervention
Advances in the management of orphan diseases
Management of pain in children with developmental disorders and chronic pain syndromes in otherwise normally developing children
Goal setting: active role of the child and parent in (re)habilitation process
Advances in technological support of the rehabilitation process.
After 2 years online, it has been an absolute pleasure to gather together again to celebrate our amazing awardees with over 250 participants in Brussels and 130 connecting remotely from 38 countries!
Yesterday marks the approval of the first medication to treat Friedreich’s Ataxia (FA), a milestone for the FA community and the Friedreich’s Ataxia Research Alliance (FARA). Reata Pharmaceuticals announced that the U.S. Food & Drug Administration has approved SKYCLARYS™ (omaveloxolone) for the treatment of people who have FA and are 16 years of age or older. This announcement comes on Rare Disease Day, which is recognized as a day to raise awareness of the unmet medical needs for the hundreds of millions of people living with rare diseases worldwide.
Rare Disease Day is the official international awareness-raising campaign for rare diseases which takes place on the last day of February each year.
The main objective of the campaign is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.
Rare Disease Day was launched by EURORDIS-Rare Diseases Europe and its Council of National Alliances in 2008.
Find more information about the Rare Disease Day on the campaign page
Essential requirements before thinking about a clinical trial
In the ERICA WP4 Clinical Trial Support webinar “Essential requirements before thinking about a clinical trial” we will overview what should be done at the very least before starting a clinical trial in a study site. All the requirements will be discussed according to the role that an investigator may have in the trial. Some guidance and sources will be also provided.
Speaker: Viviana Giannuzzi, Fondazione per la Ricerca Farmacologica Gianni Benzi Onlus
28 February 2023 from 12:00 to 13:00 (CET)
Organised by ERICA in collaboration with EJP RD and ERN BOND
This is really a great honour, not just for me but for my team and the people I collaborate with. The dominating feeling is appreciation and gratefulness to the people I am privileged to work with in the area of rare diseases. And there are many nice and fit persons I collaborate with.
This is how Holm Graessner describes his surprise and joy about the award.
Since 2012, EURORDIS-Rare Diseases Europe has organized the Black Pearl Awards. Goal of the event is to recognise the major achievements and outstanding commitment of patient advocates, patient organisations, policymakers, scientists, companies, and media who strive to make a difference for the rare disease community.
Holm studied Biomedical Engineering, Cybernetics, German Language and Literature, Philosophy, Business Administration and Marketing. He obtained a PhD (summa cum laude, 2004) and an MBA (2008). Holm is a founding member of the first Centre for Rare Diseases in Germany (2010). The center established an umbrella infrastructure (chaired by Holm), a therapy research centre and a clinical information centre for rare diseases.
I am a healthcare manager and a research manager. As healthcare manager I am the managing director of the Centre for Rare Diseases at the University Hospital Tübingen and the coordinator of the European Reference Network for Rare Neurological Diseases. As research manager, my team and I have been coordinating more than 30 large global, European and national collaborative research projects.
Holm initiated and coordinates the European Reference Network for rare neurological diseases (ERN-RND) as well as “Solve-RD – solving the unsolved rare diseases”.
Joining forces with the European Academy of Neurology (EAN), he is a fellow of the EAN and member of the management team of the coordinating panel for rare neurological diseases and of the neurogenetics panel.
Finally, Holm is one of the driving forces of the Ataxia Global Initiative and the European Network “1 Mutation 1 Medicine”.
The motivation and the will to advocate for patients with rare diseases and to improve their situation is the drive of his work even after many years.
Effective collaboration in the field of rare diseases needs to be patient-driven. So it always starts with listening to and involving patients and patient representatives. Furthermore, effective collaboration needs shared goals, appropriate resources, leadership, good communication and an engaged team. In the (academic) rare disease field, collaboration very often implies self-exploitation, at least to a certain extent. So I tend to apply the “nice people rule”. Collaborate with nice people in order to keep motivation and joy levels high.
Read Holms portrait on the EURORDIS homepage: https://www.eurordis.org/black-pearl-2023-education-and-collaboration/
Call for Proposals 2023 “Natural History Studies addressing unmet needs in Rare Diseases”
The European Joint Programme on Rare Diseases (EJP RD) has successfully implemented four Joint Transnational Calls since 2019 to further help in coordinating the research efforts of European, Associated and non-European countries in the field of rare diseases and implement the objectives of the International Rare Disease Research Consortium (IRDiRC). These actions are following the ten Joint Transnational Calls for rare diseases research projects launched previously by the ERA-Net E-Rare since 2006.
The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with expected impact to use the results in the future for benefit of patients.
Topic: Natural History studies addressing unmet needs in Rare Diseases
The objective of this call is to conduct efficient, innovative and high-quality natural history studies which will facilitate understanding of the disease’s or group of disorders’ progression throughout the lifespan of a patient. The goal of these studies is to collect and analyze comprehensive patient data to define targets for future therapies, taking into consideration innovation, safety, and efficacy.
Presenting your research at Europe’s largest neurology forum has always been exciting, and this year will be even more so. A chance for us to meet in person and your opportunity to address an audience hungry for scientific meetings!
Whether you wish to present your work as an oral platform presentation, an ePoster or as a virtual ePoster format, this is the ideal time to share your latest study results with our enthusiastic neurology community.
Important points to remember:
Make sure you have an up-to-date MyEAN profile
Check the dates, guidelines, and topics
Abstracts must be submitted online via the congress website. Get started with your submission here!
In their new monthly podcast, Rare on Air, Communications Manager, Julien Poulain, meets with people who live with a rare disease, those who advocate for them, and experts on rare disease policy.
The podcast explores the unique experiences, challenges and successes of people from our community, and investigates how we can build a better world for those who have a rare condition.
Each episode focuses on a specific theme or policy area relating to the work and advocacy of EURORDIS.
RareDiseaseDayistheofficialinternationalawareness-raisingcampaign forrarediseaseswhich takes place on the last day of February eachyear.
The main objective of the campaign is toraise awarenessamongst the general public anddecision-makers about rare diseases and theirimpact on patients’ lives.Rare Disease Day was launched by EURORDIS-Rare Diseases Europe and its Council of National Alliances in 2008.
Find more information about Rare Disease Day here.
Photo submissions for the Photo Award 2023 are open, until 22nd January 2023.
The EURORDIS Photo Award is an opportunity to visually express what it means to live with a rare disease and to share your story with the rare disease community and beyond.
The contest is open to all nationalities, ages and diseases. Every year hundreds of people from all around the world submit their photos, each reflecting the drive of people living with a rare disease worldwide.
Authors:Daphne H. Schoenmakers, Shanice Beerepoot, Ingeborg Krägeloh-Mann, Saskia Elgün, Benjamin Bender, Marjo S. van der Knaap, Nicole I. Wolf, Samuel Groeschel
Rare diseases, including rare cancers, are a heterogeneous group of largely incurable, complex conditions. There are over 6000 rare diseases, and more than 70% have a genetic origin. Although individually characterised by low prevalence, the sheer number of rare diseases results in a directly affected community of 20 million people across the EU. Rare diseases are chronic, progressive, degenerative, disabling and frequently life threatening. They are typically accompanied by a scarcity of knowledge and expertise.
The Czech Presidency of the EU Council organised the Expert Conference on Rare Diseases in Prague on 25-26 October 2022 to explore how the European Union can take continued steps towards a coordinated strategy for rare diseases to better addresses current unmet needs by setting meaningful goals for patients, families and for society at large, integrated at the national and regional levels.
For two days, experienced, as well as young academics and the representatives of patient organizations, exchanged views on existing initiatives and the improvement of research in the field of Childhood Epilepsy and Movement Disorders.
Rare neurologic disorders in pediatrics often go unrecognized, resulting in protracted delays in diagnosis and limited treatment options. Even when detected early, treatment remains mostly empiric, due in part to limitations in clinical trial design and implementation: several of these disorders with similar clinical manifestations are caused by a variety of affected genes, while therapy in one group of patients may not be applicable to all individuals with the same genetic defect. The main objective of this networking event was to bring together clinicians and scientists from different EU countries and other countries who are intensively involved in clinical research and/or basic research in the field of epilepsy and movement disorders. The event explored the possibility of new treatment approaches in light of recent developments in the field. Researchers were given the opportunity to establish new collaborations, discuss the development of precision medicine hypotheses, and conduct treatment trials to reach more patients across Europe.
From September 29th to October 1st the annual meeting took place at the CRONA-Kliniken in Tübingen. We are happy that besides the online participants also many on-site participants were present. We would like to thank all participants again for the inspiring presentations, discussions and the valuable exchange.
Astri Arnesen, ERN-RND ePAG representative and president of the European Huntington Association, participated in Tübingen and says:
In my opinion this network will be an important part of providing expertise and best practise treatment and support to RND patients all over Europe.
