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July 2024
Dear readers,
the last two webinars of the Gene Therapy wenibar series are coming up and both are hosted by us: Caroline Sevin (Leukodystrophies) today and Willeke von Roon-Mom (HD, SCA) on 23rd July.
This issue's disease knowledge is a total novum: we made a short movie of a patient journey on Dystonia showing the different stations in life when having to live with a rare neurological disease. Take some time to watch it, It's worth it!
And we also want to encourage you to sign EFNA's Rare Neurological Charter in order to support the developemnt on RND.

And as always you will find information on our upcoming webinars and events. Enjoy reading!
Best wishes,
The ERN-RND Coordination team

Content
About us
Disease Knowledge
ERN-RND Webinars
MLD Treatment Eligibility Panel
Rare Neurology Charter
Upcoming Events

ABOUT US
EAN 2024: All about Patient Journeys
For this year's EAN we chose to promote our patient journeys! Why patient journeys? Patient Journeys are a great supporting tool for different situations in everyday life: What are the symptoms? How will the disease progress over time? Is there treatment or even a cure?
Those documents offer support and orientation for patients, carers and also health care professionals who are not specialists. We developed them together with our patient representatives and clinicians.

The patient journeys are currently being translated into many European languages - just keep checking our website for new translations.

DISEASE KNOWLEDGE
Scientific Theatre: Patient Journey Dystonia
Countless visits to doctors, the feeling of "something's wrong", being undiagnosed for years - many rare disease patients are familiar with that.
Our patient journey movie on Dystonia shows the different stations of the disease as it progresses - from first symptoms over diagnosis to treatment - and how it affects a patient's everyday life as well as ways of coping.
(To see subtitles in different languages click on the gear wheel at the right corner on the bottom and choose a language.)

ERN-RND Webinars
Upcoming joint educational webinars
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.
NEW 17.09.2024, 3-4 pm CEST| ‘The role of dopamine in the pathophysiology of the Allan-Herndon-Dudley syndrome/MCT8 deficiency’ by Nina Wilpert, Charité, Berlin, Germany. SIGN UP here.
24.09.2024, 3-4 pm CEST| ‘Clinical Neurophysiology in Dystonia’ by Anke Snijders, Radboud University Medical Center, Netherlands. SIGN UP here
22.10.2024, 3-4 pm CEST| ‘Neurogeriatric Aspects and Neurological Aspects in Palliative Care of MSA, PSP and Advanced PD’ by Martin Klietz, Hannover Medical School, Germany. SIGN UP here
05.11.2024, 3-4 pm CET| ‘Diagnostic Approach to Childhood-onset Chorea’ by Juan Darío Ortigoza-Escobar, Hospital Sant Joan de Déu, Barcelona, Spain. SIGN UP here
14.11.2024, 4-5 pm CET| ‘DBS in Dystonia - the Network Perspective’ by Juho Joutsa, Turku University Hospital. SIGN UP here
19.11.2024, 3-4 pm CET| ‘Autonomic Dysfunction in Movement Disorders’ by Pietro Guaraldi, Azienda USL di Bologna, IRCCS Institute of Neurological Sciences, Bologna, Italy. SIGN UP here

NEW GENE THERAPY Webinar Series
The webinar series on Gene Therapy is co-organized by ERN-RND, EURO-NMD, ERN EpiCARE and the European Academy of Neurology (EAN). Together we’ll delve into the latest advancements and breakthroughs in this interesting field. Look forward to cutting-edge research, clinical applications and successes, ethical considerations and future prospects as well as to expert discussions and Q&A Sessions.
02.07.2024, 4 pm CEST | ‘State of the Art of Clinical Stage Gene Therapies for Leukodystrophies’ by Caroline Sevin, Kremlin Bicêtre Hospital, France. SIGN UP here. HOST ERN-RND
23.07.2024, 4 pm CEST | ‘Genetic Therapies and Therapy Developments for Rare Movement Disorders (HD, SCA)’ by Willeke van Roon-Mom, Leiden University Medical Center, the Netherlands. SIGN UP here. HOST ERN-RND
ERICA Webinars for clinical studies
To stimulate the development of inter-ERN clinical trials on diseases that overarch different ERNs, ERICA webinars are sheduled to inform ERNs about specific aspects of clinical trial research. Check the available webinars here

MLD Treatment Eligibility Panel
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.

We encourage all physicians in Europe to discuss the possible benefits of treatment options for difficult cases with this MLD expert panel.
You would like to discuss one of your patients with the panel?
Please contact us.
Neuroradiology Expert Advice for Diagnostic and Management Decisions in RND

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.
Possible scenarios for which clinicians might want to use this offer include (but are not limited to):
  • 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.

You are affiliated to an ERN-RND expert center and would like to receive neuroradiology advice for one of your patients?
Please contact us.
Rare Neurological Charter
EFNA, the European Federation for Neurological Associations, has launched a Charter to support the developement of rare neurology action plans at EU-level. ERN-RND has signed the charter - if you want to support those goals too, you can sign here.
This are the recommendations:
  1. More funding to support rare neurological disease research
  2. Promotion of the importance of natural history studies for those living with rare neurological conditions
  3. A multidisciplinary approach to rare neurological diseases
  4. A holistic appreciation of the impact on those living with a rare neurological disease, their caregivers, and their families
  5. The patient perspective and lived experience should be incorporated into decision-making, system design, treatment, and care delivery
  6. An empowered patient community – one voice for rare neurological disease
  7. Greater public awareness for rare neurology, and neurology more generally
  8. Health systems need to adopt new approaches to support HCPs in better managing rare neurological disease activity
  9. Recognise the value of precision medicine and precision care
  10. Orphan drug legislation to be optimised for rare neurological diseases
  11. Improving disability assessments
  12. Leverage the European Health Data Space
  13. Realise the potential of the revision of the EU pharmaceutical strategy

UPCOMING EVENTS
International Congress for Ataxia Research (ICAR) 2024
November 12–15 in London at the Leonardo Royal Hotel London Tower Bridge
There are just two months left until abstract submissions close for ICAR 2024! Use the instructions below to submit your abstract for consideration. Find the congress agenda here.
Book your hotel room now to avoid disappointment! Registration is now open, and hotel rooms are available for ICAR attendees using the group code. On Wednesday, September 11, 2024, these rooms return to general public sale.
MDS-ES School for Young Neurologists
September 5-7, in Bologna (Italy)
This course is intended for young neurologists within five years of their completion of general neurological training who are interested in specializing in movement disorders, and young neurologists who are already training in movement disorders. The audience will be members of the MDS European Section with a particular focus on supporting young neurologists from Eastern Europe.
Application deadline: July 5, 2024.
1st Symposium "Connection between Physics & Metabolism in Brain Function"
5 July, in Barcelona and online
For more information on the Symposium watch the video, for programme and registration click here.
International Congress of Parkinson's Disease and Movement Disorders 2024
September 27 - October 1, Philadelphia, PA, USA
To register click here.
EPNS 2025
16th European Paediatric Neurology Society Congress
8-12 July 2025, Munich, Germany
The 16th EPNS Munich Congress will classify the field into A for acute, B for Brain, Health & Science and C for Chronic. This way an own alphabet of research and care taking is created: dedicated to the children, equipped for the extending variety of neuropaediatric diseases, stimulating and integrating science.
Abstract submission will open in September. Find more Information here.

NEWSLETTER
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
Thank you for your support and take care.
Kind regards,
ERN-RND Coordination team
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ERN-RND Coordinating Center:
Tübingen University Hospital
Germany
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