February 2022
  • ERN-RND Annual Meeting
  • Documents
  • Upcoming webinars
  • CPMS case discussions
  • Funding
  • Events
  • Job openings
  • Research articles
  • Acknowledgement

ERN-RND Annual Meeting

ERN-RND Annual Meeting 2022
The ERN-RND Annual Meeting is scheduled for 29 September – 01 October 2022 in Tübingen, Germany. To enable participation of as many members as possible, we plan a hybrid event with one representative per HCP on-site.

Please mark your calendars – more information will follow.


On the Collaborative Platform you can find minutes of all meetings from Disease Groups and Working Groups.


Upcoming ERN-RND, ERN EURO-NMD and EAN joint webinars:
  • EURO-NMD webinar, 24 February 2022, Targeted therapies for Leigh syndrome: systematic review and steps towards a "treatabolome" by Rita Horvath, Cambridge Rare Diseases Centre, UK. Sign up here.
  • ERN-RND webinar, 8 March 2022, Brain Development in Huntington’s Disease by Peggy Nopoulos, Carver College of Medicine, University of Iowa, USA. Sign up here.
  • EURO-NMD webinar, 10 March 2022, Muscle ultrasound, a biomarker tool for muscular dystrophies by Nens van Alfen, Radboudumc, Nijmegen, the Netherlands. Sign up here.
  • ERN-RND webinar, 15 March 2022, Measuring disease severity in chronic progressive myelopathy by Marc Engelen, Amsterdam University Medical Center, the Netherlands. Sign up here.


„In CPMS, I have contributed on both sides, first as an expert and also by presenting a clinical case. I have already used the previous CPMS, and the new one is more user-friendly. Preparing a clinical case for the current CPMS takes about the same amount of time as for other types of meetings.” – Juan Dario Ortigoza Escobar, Barcelona

Online case discussions jour fix
Recently, regular Online Case Discussions were added to the ERN-RND activities. Any clinician from the ERN-RND network is welcome to join, contribute to the discussion and learn from the approaches of their colleagues.

You would like to contribute with a case to the discussions?
Please contact us ASAP!

Upcoming meetings:
Leukodystrophies (disease management):
Focus on HSCT treatment for Krabbe-Disease.
17.02.2022, 16:00 – 17:30 CET

Atypical Parkinsonism (disease management):
Focus on Genetic PD.
03.03.2022, 16:00 – 17:30 CET

Choreas and Huntington’s disease (disease management):
11.03.2022, 10:00 – 11:30 CET

DBS for Dystonia:
24.03.2022, 16:00 – 17:30 CET

Ataxia & HSP (disease management):
31.03.2022, 16:00 – 17:30 CET

Frontotemporal Dementia:
Date/time tbd

More information and registration via this link.


_Final Banner ERN-RND Exchange Programme_2021
ERN-RND Short Exchange Programme: call for applications!

Healthcare professionals (clinicians, nurses, physiotherapists, etc.) affiliated to ERN institutions (Full Members or Affiliated Partners) can receive organizational and financial support for secondments with clinical focus lasting up to four weeks in ERN expert centres other than their home institution, supporting the sharing of knowledge and stimulating collaboration.

More information about the programme can be found on our website!

Due to the current COVID-19 situation, secondments in the period of December 2021 to May 2022 will not be supported by the ERN Exchange Programme.
However, the online application portal remains open during the winter months and we highly encourage applications for secondment in the period from May to August 2022!

Apply now!


AGI webinar series - WG1
AGI webinar
Date: 22 February 2022
Venue: online

Scope of the seminar is to introduce and present a standard clinical assessment program for ataxia studies. Focus will be on the discussion of the strengths and weaknesses of available clinical scales. The seminar will provide an outlook of further development of scales and their use in upcoming clinical trials.
epns logo small hi res
EPNS Case Discussion: Neuromodulation in Dystonia
Date: 22 February
Venue: Online
EPNS VIRTUAL Training Course: Acute Paediatric Neurological Diseases
Date: 24 & 25 March
Venue: Online
Date: 28 April - 2 May 2022
Venue: Glasgow, UK & online

Registration for the 14th Congress of the European Paediatric Neurology Society (EPNS) is now open for onsite and virtual participation.
EAN registration
Date: 25 - 28 June 2022
Venue: Vienna, Austria

Registration is now open.
Date: 27 June - 1 July 2022
Venue: online

Poster abstracts submissions for the ECRD 2022 are now open until 31st March 2022.


We are looking for a project manager and a communication manager based in Tübingen, Germany.

Applications are open until 28 February. More information via the buttons below.


The Ataxia Global Initiative is looking for a project manager based in Tübingen, Germany.

Applications are open until 28 February. More information via the button below.


The German Human Genome-Phenome Archive is looking for an officer for scientific communications and public relations

Applications are open until 6 March. More information via the button below.


Researchers from 3 ERN-RND members (Marjo van der Knaap, Ingeborg Krägeloh-Mann, Enrico Bertini, and Nicole Wolf) published a new article: 'Therapy Trial Design in Vanishing White Matter - An Expert Consortium Opinion'.

Samuel Groeschel, Caroline Sevin, Ludger Schöls, and Nicole Wolf are co-authors on the article 'Modified Delphi procedure‑based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)'. The work was a collaboration with Metab-ERN and ERN TransplantChild.

Nicole Wolf, Marjo van der Knaap, Ingeborg Krägeloh-Mann, and Samuel Gröschel also published 'Acute-onset paralytic strabismus in toddlers is important to consider as a potential early sign of late-infantile Metachromatic Leukodystrophy'.


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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