In our November newsletter we inform you about upcoming webinars, AGI Studio on mFARS in Ataxia, and other topics related to ERN-RND.
Best wishes,
The ERN-RND Coordination team
Content
MLD Eligibility Panel
ERN-RND Disease Knowledge
ERN-RND Patient Journeys
ERN-RND Webinars
AGI Studio on mFARS in Ataxia
MLD 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?
On our website, you can find diagnostic flowcharts, recommended scales, guidelines and many more information provided by the experts of the six Disease Groups covered in ERN-RND:
Many patients have to travel a long journey until they receive a diagnosis of a rare disease. Patient Journeys demonstrate this process. They are info-graphical overviews that visualize patients’ needs in the care of their rare disease. Because Patient Journeys are designed from the patient’s perspective, they allow clinicians to effectively address the needs of rare disease patients.
We are pleased to be able to offer our Patient Journeys in different languages. Some Patient Journeys have already been translated, others are currently being translated.
If you would like to translate a patient journey in your own language, please contact us and we will send you the documents to do so.
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:28.11.2023, 3-4 pm CET| ‘Insights into growing up in families affected by Huntington’s disease’ by Siri Hagen Kjølaas, Oslo University Hospital HF, Center for rare diagnosis, Oslo, Norway. SIGN UP here
05.12.2023, 3-4 pm CETNEW DATE: Wednesday, 13.12.2023, 2-3 pm CET| ‘Diagnostic workup for genito-urinary dysfunctions in atypical parkinsonism’ by Pietro Guaraldi, Azienda USL di Bologna, IRCCS Institute of Neurological Sciences, Bologna, Italy. SIGN UP here
23.01.2024, 3-4 pm CET| ‘Autoimmune chorea’ by Jeroen Kerstens, Antwerp University Hospital, Belgium. SIGN UP here
06.02.2024, 3-4 pm CET| ‘Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities’ by Sarah Tabrizi, UCL Queen Square Institute of Neurology, London, UK. SIGN UP here
20.02.2024, 3-4 pm CET| ‘Newborn screening in leukodystrophies’ by Lucia Laugwitz, University Hospital Tübingen, Germany. SIGN UP here
27.02.2024, 3-4 pm CET| ‘Neuropsychological assessment in primary progressive aphasia – recommendations and pitfalls in clinical practice’ by Lize Jiskoot, Rotterdam University Medical Center, Netherlands. SIGN UP here
Ataxia Global Initiative cordially invites you to the next AGI Tools & Methods studio series:
The mFARS Score and why it can work even better in Spinocerebellar Ataxia.
Speaker: Christian Rummey, Clinical Data Science GmbH, Basel, Switzerland
Host: Matthis Synofzik, on behalf of AGI WG Clinical Outcomes
Date: 20 November 2023, 5-6 pm CET
AGI studios are not “ready-to-digest presentations”, but instead aim to provide an active, joint open discussion format for hard-to-crack methodological key bottlenecks in the ataxia trial-readiness field, where potential first approaches towards solutions are to be developed jointly by all attendees (rather than ready-made by the presenter and/or moderator).
The ERN-RND Newsletter is published monthly. Please forward this newsletter to your colleagues who can also sign up to receive it directly hereor by emailing
