Dear ERN-RND members,

in our Bulletin we inform you about topics related to ERN-RND.

We hope you enjoy reading!

Best wishes,
The ERN-RND Coordination Team
April 2023
  • ERN-RND Annual Meeting 2023
  • ERN-RND Disease Group and Working Group Meetings
  • Documents
  • Surveys
  • ERN-RND Disease Knowledge
  • ERN-RND Patient Journeys
  • Upcoming webinars
  • Online case discussions
  • ERN-RND Register
  • Funding
  • Events
  • Ataxia Global
  • Solve-RD
  • Publications
  • Acknowledgement

ERN-RND Annual Meeting 2023

ERN-RND Annual Meeting 2023
As of 2023 the ERN-RND Annual Meeting will adopt a new format: we will alternate biennially between “Care-RND” (focussed on care) and “Treat-RND” (focussed on treatment), switching to a more content-oriented event that will bring together all major stakeholders. Apart from covering the topics specific to our disease groups and working groups, external speakers and industry partners will be invited.

Date: 19-20 September or 20-21 September (to be confirmed)

We will share the detailed agenda of this year’s meeting soon.

We are looking forward to meeting you in Leuven!

ERN-RND Disease Group and Working Group Meetings

Note now the dates of the upcoming meetings in spring 2023 and winter 2024.


The following new documents have been uploaded to the Collaborative Platform:


Survey on mitochondrial diseases management in Europe

Recently, several European Reference Networks for rare or low prevalence diseases (ERNs) decided to join forces. They created a joint work group dedicated to mitochondrial diseases, built by experts on Rare Neurological Diseases (ERN RND), Neuromuscular Diseases (ERN EURO-NMD), Rare and Complex Epilepsies (EpiCARE), Eye Diseases (ERN-EYE), Hereditary Metabolic Disorders (MetabERN), and by patient representatives.
Today, these experts call on you and your experience from everyday clinics, to get a clear picture on how mitochondrial diseases are managed throughout Europe. Please do help us get a maximum of input from clinicians, by answering the survey and do not hesitate to share the survey with your colleagues.

Answering the survey will take no more than 10 minutes. Your contribution is precious as the action of the experts towards harmonisation of mitochondrial diseases management in Europe will be based on your answers.
Survey - ERN Patient Partnership Framework
The aim of the Patient Partnership Framework is to formalise a guiding structure for all patient-clinician cooperation, with defined goals and principles. For more information on the objectives of this framework, please read the attached factsheet. We are also sharing with in case is of interest a summary from the insights of the literature on patient engagement in healthcare and that we have used to develop this survey.

You are invited to take part in and share this survey to help develop a Patient Partnership Framework for the ERNs. The survey will take approximately 10 minutes to complete and is open to patient representatives, individual patients and family members, clinicians and project managers who are involved in the ERNs.

The survey closes on Friday, 19 May.

Thank you in advance for sharing your opinions and insights!
Survey on: Inventory of current practices regarding HSCT in metachromatic leukodystrophy in Europe and neighboring countries
MLD is a rare neurometabolic disorder and sometimes treatment with hematopoietic stem cell transplantation(HSCT) is beneficial. This inventory is a joint effort from the MLD initiative and the ERN-RND. As a first step towards harmonization and improvement of (cross-border) MLD care, we would like to explore the current practices regarding HSCT in MLD in different countries in the European Union and neighboring countries.
Completing the survey will take approximately 15 minutes. Saving a draft and continuing later is possible. You may also receive an invitation through other channels. Please note, that you only need to fill out the survey once. May we ask you to fill in the survey before May 15?
Who should participate?
All physicians involved in care for MLD patients, including transplant specialists, (child) neurologists and metabolic physicians.
Why should you participate?
Your contribution helps to gain insight in the differences in stem cell transplantation for MLD among different countries. This is important for optimizing care for patients with MLD in Europe.

ERN-RND Disease Knowledge

Information about Disease Groups
The Cerebellar Ataxia is one of the six Disease Groups covered in ERN-RND. New documents and/or translations are added continuously.
If you have any comments or useful information that could be added, please contact us.

ERN-RND Patient Journeys

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.
ERN-RND provides so far the following Patient Journeys:

Patient journey – Friedreich’s Ataxia
Patient Journey - Hereditary Spastic Paraplegias (HSPs)
Patient Journey – Huntington’s disease
Patient Journey - Dystonia

The different Patient Journeys are also available as flyers.

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

Upcoming Webinars

Webinar hauptlogo-final
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.

09.05.2023, 3-4 pm CET| ‘Non-pharmacological approaches to treatment in svPPA’ by Ana Sofia Costa, RWTH-University Hospital Aachen, Germany. SIGN UP here

23.05.2023, 3-4 pm CET| ‘Frontotemporal dementia vs. primary psychiatric disorders’ by Tim van Langenhove, University Hospital Ghent, Belgium. SIGN UP here

20.06.2023, 3-4 pm CET| ‘Haematopoietic Stem Cell Transplantion in Leukodystrophies’ by Jörn-Sven Kühl, University Hospital Leipzig, Germany. SIGN UP here

27.06.2023, 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

Online Case Discussions


MLD treatment eligibility panels in ERN-RND

(in co-operation with MLDi)

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.

CPMS & Case Discussions: live online trainings

If you missed our information & training sessions on CPMS and Case Discussions in ERN-RND so far, or would like to refresh your memory on how to use CPMS, we invite you to join our next training session on:

Wednesday, May 10, 4:00 – 5:00 PM CEST
Register for the session now:

All clinicians from ERN-RND member hospitals are welcome; the content of the session is identical to previous trainings last year.
Additionally, feel free to contact us any time for an individual training session and for answering your questions related to CPMS & ERN-RND’s Case Discussions!

You do not have a CPMS account yet? Check our website to find out more about how to use CPMS on our website.

Online case discussions jour fixe
The regular Online Case Discussions are open to all clinicians from the ERN-RND network.
You would like to present a case to the discussion? All cases (unsolved and solved/disease management) are welcome.
Please contact us ASAP!
Upcoming meetings:

Thursday, 27/04/23, 16 – 17:30 CET
Register here for joining the discussion:

Frontotemporal dementia:
Thursday, 04/05/23, 16 – 17:30 CET
Register here for joining the discussion:
Dystonia, NBIA & Paroxysmal Disorders:
Thursday, 11/05/23, 16 – 17:30 CET
Register here for joining the discussion:
Ataxia & HSP:
Wednesday, 17/05/23, 16 – 17:30 CET
Register here for joining the discussion:

ERN-RND Register

ERN-RND Registry

Many thanks to all centers who have already submitted data of 2022 to the Registry.

If you need help with the data upload or the Data Sharing Agreement, please get in contact with our Registry coordinator Christina Vossler-Wolf:


Travel grants to present ERN-RND results at conferences

ERN-RND offers travel grants to present ERN-RND results at conferences. It covers a maximum of 2000 € for travel and accommodation expenses, and will be granted following an application that needs to be approved by the ERN-RND management team.
The event you apply for must take place in the period covered by the actual ERN-RND grant (01 April 2022 – 31 August 2023), retrospective applications are possible.
In case you are interested, please get in contact with Carola Reinhard (


Summer School for Early Career Researchers focusing on Childhood-onset Disabilities
17-21 July 2023, Poznan, Poland

Summer School for Early Career Researchers focusing on Childhood-onset Disabilities
The EACD Summer School 2023 is a 5-day training course from a Monday morning to Friday afternoon, organized by the European Academy of Childhood Disability together with the Poznan University of Medical Sciences from 17-21 July 2023 in Poznan, Poland.
The 35th European Academy of Childhood Disability (EACD) Annual Meeting
May 24th to 27th 2023. Ljubljana, 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:
  1. The importance of timely intervention
  2. Advances in the management of orphan diseases
  3. Management of pain in children with developmental disorders and chronic pain syndromes in otherwise normally developing children
  4. Goal setting: active role of the child and parent in (re)habilitation process
  5. Advances in technological support of the rehabilitation process
Preliminary program online!
ERN-RND participates in the pre-conference programme "Pediatric dystonia".
Congress of the Euorpean Paediatric Neurology Society
20-24 June 2023, Prague
We look forward to welcoming you to the magnificent city of Prague where history meets today. You will have the opportunity to learn about the latest developments in the rapidly evolving field of child neurology and network with colleagues and industry partners all focused on delivering the best possible care for children with neurological disorders.
EAN 2023: congress registration is open
The 9th Annual Congress of the European Academy of Neurology will be held in Budapest, July 1-4, 2023.
The amount of data available in neurology, neuroscience, neurobiology and related disciplines is rising exponentially and our ability to analyse and utilise those data is becoming ever more sophisticated. This will be the topic of the overarching theme of the European Academy’s 2023 annual congress, ‘Neurology Beyond Big Data’, where concepts, recent advances, opportunities and challenges will be discussed.

ERICA WP4 Clinical Trial Support Webinar Series

ERICA WP4 Webinar: Introduction on Patient-Reported Outcomes and considerations before including them in a clinical trial.
Wednesday May 10th 2023, from 12:30 to 13:30 CEST
The main objective of the webinar will be to give an overview of Patient-Reported Outcomes Measures (PROMs) and Patient-Reported Experience Measures (PREMs) in clinical research.

Ataxia Global

AGI YII webinar series

Second AGI YII Webinar Series

The topic of the second webinar series of the Ataxia Global Young Investigator Initiative is
iScience: AGI YII Webinar Series on Hot Topics
Explore Your Future in Ataxia Research
The webinars will start in May 2023.
Target audience: young investigators in the ataxia field, who we hope to give a head start in their career by introducing important aspects of various research topics. Of course, anyone who is interested is welcome to attend!
Registration: The registration is now open.


Solve-RD Final Meeting 2023
The impact of Solve-RD on research & care of RD patients – public symposium
26 April 2023 | Public symposium “The impact of Solve-RD on research & care of RD patients”: two keynote lectures given by Ines Thiele from the University of Galway and Timothy Yu from Harvard Medical School will be followed by reports on the future of Solve-RD and the patients perspective. Major achievements of Solve-RD will be presented and a round table will discuss the future of rare disease diagnostics in Europe. This event is open to the public and can be attended by all interested parties via a Zoom webinar. All presentations will be given on-site in Prague. Register here.


Once we are made aware of a new publication to which an ERN-RND member has contributed, we post the link to it in the news section of the ERN-RND website here.
You can also email us directly to let us know that you have recently published a research article.


Please use one of the sentences below to acknowledge ERN-RND in all publications/presentations/clinical trials etc. (this document can also be found on the Collaborative Platform).
If possible, the logo should also be displayed.
Kind regards,
ERN-RND Coordination team
This is an internal email which was sent to ERN-RND full members, affiliated partners and ePAG patient representatives.
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