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the registration for our Scientific Symposium "European Healthcare for RND Patients" (remotely, open to all) on October 28 is now open - it is part of the ERN-RND Annual Meeting (restricted to ERN-RND members). Find the programme below.
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And as always you will find information on our upcoming webinars and events. Enjoy reading!
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Best wishes,
The ERN-RND Coordination team
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CONTENT
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About us
Disease Knowledge
ERN-RND Webinars
Cross-border Healthcare
Funding Opportunities
Participation Calls
Upcoming Events
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ABOUT US
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Scientific Symposium (part of the ERN-RND Annual Meeting) - Registration open
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The registration for our Scientific Symposium "European Healthcare for RND Patients" on October 28 is now open! This will be organised back-to-back with the ERN-RND Annual Meeting (restricted to ERN-RND members). To attend the Symposium (open to all, free of charge) remotely, please register here.
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SESSION 1
Cross-border Access to Highly Specialized Therapies for Ultra-Rare Conditions
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Fetal Surgery as
an ERN example
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“Just like home” Program
at Fondazione Telethon for accessing Gene Therapy
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(Fondazione Telethon Milan)
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EURORDIS’ Lighthouse Concept
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Krabbe Disease Expert Panel
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SESSION 2
Multidisciplinary Case Discussion for Controlling Access and Ensuring Best Possible Outcome for Highly Specialized Therapies
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Epilepsy Surgery as
an EpiCARE use case
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Deep Brain Stimulation –
Pitch and Live Case Discussion
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Metachromatic Leukodystrophy Treatment Eligibility –
Pitch and Live Case Discussion
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SESSION 3
JARDIN I Integration of ERNs into National Healthcare Systems
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Overview and First Results
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Till Voigtlaender (Viena)
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National Reference Networks
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Development and implementation
of ERN care pathways
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Pavla Doležalová (Prague)
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Standardizing Paediatric Rating Scales - Interview Juan Dario Ortigoza Escobar
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Although there are some paediatric rating scales there is no standard use within the ERN-RND centers, resulting in centers applying different scales, at different ages, in different frequency (find the publication here). And this can lead to an inconsistent care for children.
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Therefore, a standardization for the use of paediatric rating scales is needed. Our ERN-RND clinician Juan Dario Ortigoza Escobar gives an insight on this project and also talks about the next steps, including new rating scales, like a developmental rating scale or a quality of life rating scale.
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ERN-RND ePAGs visit the Children's Hospital Sant Joan de Déu in Barcelona
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Having a rare disease means spending a lot of time around doctors and hospitals. Places, that even adults will not describe as comfortable. Now, imagine how children will feel in such hospital situations, when not grasping the full extent of their condition but still having to wait for hours, sitting still and not knowing what is coming next. So, from a child’s perspective hospitals can be quite scary. But not in Sant Joan de Déu Children’s Hospital, Barcelona (HSJD) - where everything is about Hospitality, as ERN-RND clinician Juan Dario Ortigoza Escobar, who is a pediatric neurologist specialized in movement disorders and the organizer of our visit, explained to us.
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One year after our ePAG visited the Center for Rare Movement Disorders Innsbruck (CRMDI) at the Medical University of Innsbruck, we found ourselves in Barcelona at another expert center in the ERN-RND network: Children's Hospital Sant Joan de Déu, a private, non-profit institution dedicated to public service. It did not disappoint. This hospital is truly exceptional — a model of what healthcare institutions should aspire to be.
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From the moment we arrived, it was clear that the vibrant videos and curated online images of the hospital reflect its true atmosphere. The colors throughout the building are bright and cheerful. The energy is positive in every corner. Every person we encountered — without exception — greeted us with a smile. Offices were full of greenery. Near the entrance, brightly colored lines guide families to key departments: Rehabilitation, Laboratory, Radiology, and the Emergency Department. Each line is paired with an animal sound to help orient children — a simple but powerful example of thoughtful, patient-centered design. And a lot of various opportunities to play and distractions for children, while having to wait or during examinations – be it sliding from the upper to the lower floor or diving into the deep space when entering an MRI (find more impressions of the hospital in this video).
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The main objective of our visit was to understand how HSJD structures its patient-centered care model, engages in cross-border collaborations, and meaningfully involves patients and families in decision-making processes. We also explored how the Rare Disease Center and Patient Experience Center contribute to delivering high-quality, equitable care for children with rare neurological conditions.
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Presentations and Key Takeaways
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We attended four insightful presentations and toured the hospital:
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Dr. Ortigoza – ERN-RND at HSJD & Collaborative Projects
HSJD sees 322,846 outpatient visits, 16,323 surgeries, 170,131 emergency visits, and over 3,000 births annually. The hospital’s most valuable ERN activities include: clinical case discussions via CPMS, guideline development and update of clinical rating scales, collaborative research and registries, and cross-ERN webinars.
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Roser Francisco – HSJD’s Accreditation in ERNs
HSJD is accredited as expert center at regional, national and European level. HSJD is a member of 21 of the 24 ERNs and specializes in pediatric and maternity care — a remarkable achievement and testament to their commitment to excellence.
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Joan Vinyets Rejón – Patient Experience at HSJD
The Department of Quality and Patient Experience strives for excellence in care by placing patients and families at the center and working collaboratively across all departments.
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Dr. Antonio Martinez Montseny – The UNICAS Project: Coordinated Rare Disease Care
The UNICAS network, now including 30 hospitals across Spain, was initiated by HSJD with FEDER and is now led by the Ministry of Health. It aims to promote equity in care for pediatric rare diseases through coordinated, nationwide collaboration.
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Dr. Ortigoza also highlighted a major challenge: the need to educate primary care pediatric neurologists to recognize early signs of rare diseases and refer patients to Centros, Servicios y Unidades de Referencia (CSUR) — specialized centers for advanced diagnosis and treatment.
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What stood out most is how seriously HSJD takes the patient voice. The hospital's commitment to truly inclusive, thoughtful care is evident at every level. It exemplifies the Gold Standard in pediatric healthcare — not just in technology or structure, but in values, empathy, and shared purpose.
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Report written by Lori Renna Linton, member of ERN-RND European Patient Advocacy Group (ePAG)
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ERN-RND says thank you for this great and informative visit!
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FOLLOW US ON BLUESKY
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Add us all, many more will follow!
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DISEASE KNOWLEDGE
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UPDATE Scales to Measure Dystonia
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New are the Tsui Scale for Dystonia and an addition to the Toronto Western Spasmodic Torticollis Rating Scale. Find the document here.
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ERN-RND WEBINARS
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Upcoming Joint Educational Webinars
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ERN-RND provides free educational webinars on rare neurological and neuromuscular diseases - in collaboration with the European Reference Network for Rare Neuromuscular Diseases (EURO-NMD) and the European Academy of Neurology (EAN). The goal is to share knowledge on rare neurological, movement and neuromuscular disorders via a series of webinars presented by expert members of both networks.
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10.07.2025, 4-5 pm CEST | ‘Non-Pharmacological Management of Myopathies’ by Peter Young, Clinic for Rehabilitation Medical Park Reithofpark, Germany. SIGN UP here. (EURO-NMD)
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16.09.2025, 3-4 pm CEST | ‘Neurological and Non-neurological Aspects in Palliative Care of FTD and PPA Patients’ by Renate Wahl, University Hospital Aachen, Germany. SIGN UP here. (ERN-RND)
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23.09.2025, 3-4 pm CEST | ‘Patient Journeys as Working Documents to Identify Gaps in Care and Adapt Care Pathways and Better Meet the Needs of Patients’ by Petya Mihaylova, Mary Kearney, Irish Consortium: Tallaght University Hospital and Children's Health Ireland & FARA Ireland. SIGN UP here. (ERN-RND)
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30.09.2025, 3-4 pm CEST | ‘Social and Lifestyle Issues Related to FTD and PPA’ by Alexa Häger, University Hospital Aachen, Germany. SIGN UP here. (ERN-RND)
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28.10.2025, 8am CET | ‘Scientific Symposium European Healthcare for RND Patients’, part of the ERN-RND Annual Meeting Care-RND 25. SIGN UP here. (ERN-RND)
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11.11.2025, 3-4 pm CET | ‘Guidelines on the Assessment and Treatment of Neurogenic Urinary and Sexual Symptoms (NEUROGED Guidelines)’, by Alessandra Fanciulli, Pietro Guaraldi, Medical University Innsbruck, Austria & IRCCS - Institute of Neurological Sciences of Bologna, Italy. SIGN UP here. (ERN-RND)
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18.11.2025, 3-4 pm CET | ‘Recent Advances in Episodic Ataxias’ by Elisabetta Indelicato and David Pellerin, Medical University Innsbruck, Austria, and Miller School of Medicine, Miami, USA. SIGN UP here. (ERN-RND)
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02.12.2025, 3-4 pm CET | ‘Fluid Biomarkers in FTD’ by Domenico Plantone, AOU - University Hospital Siena, Italy. SIGN UP here. (ERN-RND)
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eanCampus offers monthly webinars, 2 master classes per year and weekly podcasts on 3 expert levels (basic, advanced, expert), in total more than 1000 pieces.
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CROSS-BORDER HEALTH CARE
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MLD Treatment Eligibility Panel
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In cooperation with the MLD initiative, ERN-RND established a standard pathway for consulting an international MLD expert panel whenever possible benefits of treatment with hematopoietic stem cell transplantation or gene therapy are not straightforward for a patient with confirmed MLD diagnosis. Upon submission of an eligible case, the treatment eligibility panel is convened on an ad hoc basis, organized and supported by the ERN-RND CPMS helpdesk.
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We encourage all physicians in Europe to discuss the possible benefits of treatment options for difficult cases with this MLD expert panel.
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You would like to discuss one of your patients with the panel?
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Online Multidisciplinary Board for Deep Brain Stimulation in Dystonia
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ERN-RND has established a standard pathway for providing multidisciplinary expert recommendations concerning Deep Brain Stimulation (DBS) in Dystonia.
Potential questions which the multidisciplinary board may address include (but are not limited to):
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- INDICATION DBS candidate yes/no?
- TARGET Which Target; GPi, STN, VoA?
- PROGRAMMING Treatment advices of implanted patients
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To make use of this opportunity, relevant medical data must be provided via the telemedicine platform CPMS beforehand.
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Advice will be provided by at minimum one dystonia expert specialized in DBS and a stereotactic surgeon specialized in DBS, plus further specialists invited case-by-case in a virtual meeting with the referring clinician.
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Neuroradiology Expert Advice for Diagnostic and Management Decisions in RND
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ERN-RND has established a standard pathway for providing expert neuroradiological advice across sites. Our ERN-RND member hospitals (and affiliated partners) are encouraged to contact us for any RND case for which they would like a second opinion as a basis for individual recommendations for diagnostic and management strategies to optimize patient care.
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Possible scenarios for which clinicians might want to use this offer include (but are not limited to):
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- Child with mild developmental delay: benign / onset of disease? -> cMRI: delayed brain maturation vs. (subtle) structural abnormalities
- Child with delay + subtle signs: acquired / genetic? -> cMRI: acquired disease, e.g. CMV infection / TORCH vs. likely genetic
- Acutely ill patients with suspected encephalopathy -> cMRI: secondary, e.g. infectious / para-infectious vs. metabolic / genetic
- Cerebellar syndrome with fast progression -> cMRI: secondary, e.g., cerebellitis vs. genetic
- Patient after pharmacological treatment showing brain volume reduction -> cMRI: side effects vs. neurodegenerative / neurogenetic disease
To make use of this opportunity, imaging data must be provided via CPMS. Advice will be provided in a virtual meeting between the referring physician plus the initial neuroradiologist and a dedicated ERN-RND neuroradiological expert clinician (and further experts if necessary. Meetings are facilitated by the ERN-RND CPMS helpdesk.
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You are affiliated to an ERN-RND expert center and would like to receive neuroradiology advice for one of your patients?
Please contact us.
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Learn more about the Neuroradiology Expert Advice Panel in this video interview with Eva Bültmann, who is an expert in neuroradiology and coordinates this panel.
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FUNDING OPPORTUNITIES
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Horizon Europe Work Programme 2025
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The Horizon Europe Work Programme 2025 was adopted on 14 May 2025. All documents are available here.
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There is one project that aims to support the conduct of multinational clinical studies on orphan devices and/or breakthrough devices, for which an overall budget of EUR 40 million is available.
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ERDERA: Networking Support Scheme (NSS)
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Through this constantly open call, ERDERA supports the organisation of transnational networking events that promote knowledge sharing, research uptake and collaborations among clinicians, researchers, and patients/patient advocacy organizations.
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These events will strengthen new or expanding research networks on rare diseases and rare cancers in general and promote the inclusion of typically underrepresented countries in European rare diseases and rare cancers networks in particular.
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With funding of up to €30 000 per networking event, the scheme offers a flexible framework for building the connections essential to meaningful knowledge sharing in rare disease and rare cancers research.
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Find more information here.
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PARTICIPATION CALL
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ERDERA’s patient-engagement working group has opened an online survey to gauge how rare-disease patient organisations experience their role in publicly funded research, including projects financed under ERDERA’s predecessors, EJPRD and the E-Rare schemes.
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The questionnaire will stay live for two to four more weeks and seeks first-hand assessments of what works, and what falls short, when patients are invited to shape studies that ultimately affect their own lives.
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UPCOMING EVENTS
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MDS-ES Dystonia: Bridging Theory and Hands-On Expertise
September 5-6, Istanbul, Turkey
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The MDS-ES Dystonia: Bridging Theory and Hands-On Expertise course will provide an opportunity for in-depth exploration of dystonia, focusing on its pathophysiology, diagnosis, and current management strategies. The course will consist of theoretical lectures and hands-on practice sessions to ensure a comprehensive learning experience. Attendees will gain a deeper understanding of pathophysiology and genetics of various types of dystonia. The course will also cover emerging treatment modalities, including botulinum toxin injections, deep brain stimulation (DBS), and physical therapy interventions.
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2nd Symposium on the Connection Between Physics and Metabolism in Brain Functions
November 7, Paris (France) and online
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Metabolism and cellular mechanics are closely intertwined. Following the success of the 1st international symposium connecting physics and metabolism in brain functions (Barcelona, July 2024), we are pleased to welcome you in Paris for this 2nd edition. This event will bring together world experts in physics, chemistry, neurobiology, and philosophy with the aim of fostering new collaborations and promoting the so-called “night science”, an interdisciplinary approach by which new ideas arise and questions/ hypotheses are generated. Join us and interact with prestigious speakers who will discuss the physics of cellular trafficking, neurotransmission, sensory systems, and beyond. The symposium will also integrate musical pieces to deepen our quest for understanding the living.
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Find programme and registration here.
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ICAR 2026
November 10-13, 2026, Atlanta, Georgia (USA)
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Ataxia UK, National Ataxia Foundation (NAF), Friedreich’s Ataxia Research Alliance (FARA), and Ataxia Global Initiative (AGI) are pleased to announce the date for the next International Congress for Ataxia Research (ICAR).
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ICAR 2026 will take place at the Renaissance Atlanta Waverly Hotel & Convention Center in Atlanta, Georgia, U.S. Please save the date for November 10-13, 2026.
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ICAR 2026 will be the place to share the latest ataxia research, including updates on Friedreich's ataxia and SCAs 1, 2, 3, 6, 7, and more. Attendees will hear developments in novel treatment approaches, clinical trial results, and scientific debates from leading ataxia researchers. There will also be the opportunity to network with academic and industry leaders. Special sessions and events are planned for junior researchers.
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38th Annual Meeting of EACD
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June 3-6, Galway, Ireland
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The old Irish wisdom ‘Mol an Óige agus Tiocfaidh Siad’ – Encourage the young and they will flourish – is the theme of EACD 2026. The conference will focus on disability and health through a holistic lens. Taking a lifespan approach and positioning the voice of people with childhood-onset disabilities and their families at the centre of all that we do, we aspire to support people with disabilities to flourish not just now but into their futures.
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Deadlines for Abstract Submission
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- Mini-Symposia – 5 September 2025
- Other Tracks (Oral Communications, Instructional Courses, Scientific Posters, Technology & Innovation Pitches) – 7 November 2025
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12th Congress of the European Academy of Neurology
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June 27-30, Geneva, Switzerland
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EAN's overarching theme for 2026 is Brains, Bytes & Beyond: Tech in Neurology. The outsourcing of cognitive capacities from humans to artificial intelligence offers huge opportunities but also significant challenges and risks. In clinical neurology, the impact of computing will range from applications like restorative therapies to the very fundamentals of our profession such as clinical reasoning and decision making. Through this year’s theme, EAN will explore the extent to which computing is finding its way into neurological practice.
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NEWSLETTER
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The ERN-RND Newsletter is published monthly. Please forward this newsletter to your colleagues who can also sign up to receive it directly here or by emailing communication@ern-rnd.eu
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Thank you for your support and take care.
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ERN-RND Coordination team
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