18 February 2019 | Trial readiness and registries in RND workshop report

On 18 February 2019, ERN-RND organised a multi-stakeholder workshop (clinicians, industry, patients, regulators, and registry administrators) in Amsterdam on trial readiness and registries in rare neurological diseases.

The workshop pursued the following objectives:

  • Bring together leading persons of the different stakeholder groups (see proposed list of invitees) and form a RND trial readiness network at European level
  • Map clinical status of trial readiness for the different RND
  • Discuss and agree minimal quality requirement for trial-ready registries
  • Define areas in which ERN-RND can facilitate trial readiness for RNDThe following action points were consented:
  •  Team up for a pilot studies as regards FAIRification of a RND registries and natural history studies
  • Recommendation on Informed Consent Form to be used for RND registries
  • Invite and communicate with key opinion leader from the neuromuscular field to benefit from their experiences
  • Start structured dialogue with EMA on therapeutic biomarkersThe workshop was attended by the following participants:

Clinical experts

  • Ludger Schoels, University Hospital Tübingen
  • Thomas Klockgether, University Hospital Bonn
  • Matthis Synofzik, University Hospital Tübingen
  • Alexandra Durr, APHP Paris
  • Gunter Hoeglinger, DZNE Munich
  • Rebecca Schüle-Freyer, University Hospital TübingenData sharing / FAIR data


  • Eleni Mina, Leiden UMC
  • Marco Roos, Leiden UMCERN-RND coordination
  • Holm Graessner, University Hospital Tübingen
  • Carola Reinhard, University Hospital TübingenRegulators
  • Pavel Balabanov, EMA

Patient representatives

  • Cathalijne van Doorne, euro-Ataxia and European Federation of Neurological Associations
  • Tsveta Schyns-Liharska, European Network for Research on Alternating Hemiplegia (ENRAH)
  • Astri Arnesen, European Huntington Association
  • Gulcin Gumus, Eurordis

Registry hosting organisations

  • Torsten Illmann, 2mt
  • Michael Wallner, 2mt
  • Reinhard Schneider, LCSB Luxembourg
  • Ruth Herberz, DZNE Bonn

Data protection experts

  • Johan Wisenborn, Novartis
  • Annika Spottke, DZNE Bonn

Pharma industry

  • Paul Goldberg, Ionis
  • Baltazar Gomez-Mancilla, Novartis
  • Petra Kaufmann, Avexis/Novartis