October 2023
Dear readers,

We had a busy month in September. The revised proposal for the upcoming four years has been successfully submitted, and we held our annual meeting in Leuven, Belgium, where lots of new projects have been presented and discussed.

Both activities really left us optimistic for the upcoming years and we are looking forward to work with you in the future!

    Best wishes,
    The ERN-RND Coordination team


    Call on the EU institutions and EU Member States’ governments to stand by the European Reference Networks
    ERN-RND Annual Meeting
    All ERN Meeting in Bilbao
    MLD Eligibility Panel
    ERN-RND Disease Knowledge
    Ataxia Global Conference 2023
    EACD Conference

    Call on the EU institutions and EU Member States' governments to stand by the European Reference Networks

    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 complete letter can be found here.

    ERN-RND Annual Meeting

    60 ERN-RND members met in Leuven, and many more joined online for the Care-RND symposium on the 19th of September. A huge thanks to all contributors that made the meeting a great success!

    All ERN Meeting in Bilbao

    As the ERN-RND coordinator, Holm Graessner, is this years’ chair of the ERN coordinators’ group, we are looking forward to meet all ERN coordinators and project managers in Bilbao, Spain on 09 and 10 October 2023, back to back with the EESC – Conference on Rare Diseases.

    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?
    Please contact us.

    ERN-RND Disease Knowledge

    Our aim is to translate the ERN-RND disease knowledge into all European languages. Do you want to know how far we have come already? Have a look at the Ataxia/HSP disease knowledge page of the ERN-RND website here and check for translations in French, Polish, Czech, Dutch, Italian and Portuguese for example.

    ERN-RND Patient Journeys

    Patient Journeys 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 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.
    10 October 2023, 3-4 pm CET ‘Advanced therapies and clinical trials in Leukodystrophies‘ by Caroline Sevin (Reference Centre for Leukodystrophies, University Hospital Bicetre, Paris, France) & Nicole Wolf (Amsterdam Leukodystrophy Center, VUMC- Amsterdam University Medical Centers, Netherlands)

    17 October 2023, 3-4 pm CET ‘Neuro-ophthalmological presentations of rare neurometabolic diseases’ by Tatiana Brémovà-Ertl (Center for Rare Diseases, University Hospital Bern, Switzerland)

    24 October 2023, 3-4 pm CET 'Newborn screening in leukodystrophies' by Lucia Laugwitz (University Hospital Tübingen, Germany) - has to be postponed, new date to be announced

    9 November 2023, 4-5 pm CET ‘Pathology of Peripheral Nerves‘ by Joachim Weis (University Hospital RWTH Aachen, Germany)

    14 November 2023, 3-4 pm CET Diagnostic workup and prognostic implication for sleep disorders in atypical parkinsonisms by Giovanna Calandra Buonaura (University of Bologna, IRCCS Institute of Neurological Sciences, Bologna, Italy) SIGN UP

    05 December 2023, 3-4 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)

    Ataxia Global Conference 2023

    Ataxia Global Initiative cordially invites you to the next Ataxia Global Conference:

    Best Endpoints: an Evidence-Based Analysis and Consensus Suggestion for the Currently Best Endpoints in each Ataxia Trial Outcome Domain.

    It will take place online on 15 and 16 November 2023.
    During the conference, the AGI working Groups will present their work on best endpoints in their ataxia trial outcome domain (patient-reported outcome, digital-motor gait and balance measures, NfL and MRI domains). An endpoint is a defined parameter intended to reflect an outcome of interest that is statistically analyzed to address a particular research question (BEST 2016). The endpoints will be presented for different aspects of a trial scenario with partial application for disease-modifying drug development.

    EACD Conference 2024

    Abstract Submission open
    The next conference of the European Academy for Childhood Disability (EACD) will be held in Bruges from 29 May to 01 June 2024 and is now open for abstract submissions!


    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
    Thank you for your support and take care.

    Kind regards,
    ERN-RND Coordination team
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