Clinical Research Networks for Rare Diseases


The Task Force on Clinical Research Networks for Rare Diseases will build on experience gained and ongoing initiatives, and is aimed to identify policy recommendations for the development and adoption of new diagnostic tools and therapies, and to establish findable, usable protocols for data collection, infrastructures, data repository, longitudinal studies, clinical trials and natural history studies.


The objectives of the Task Force on Clinical Research Networks for Rare Diseases will be threefold:

  • To map and analyse the exiting ecosystem of national/supranational clinical research networks
  • To develop policy recommendation on guiding principles for an international framework of collaboration of these networks in respect to best practices, interoperability, tools and common goals
  • To develop relevant recommendations for funders based on gaps identified through the mapping exercise

Plans and Timeline

  • Assembly of a Task Force team (Q2, 2019) 
  • Develop a scope of the challenge and state-of-play document including an overview of the different clinical plans for clinical research networks for rare diseases (Q2, 2020) 
  • Develop and disseminate the recommendations of the Task Force (Q3, 2021) 

Members (20)

  • Dixie Baker – Martin, Blanck and Associates, USA 
  • Lora Black – Sanford Research, USA 
  • Isabella Brambilla – Dravet Italia Onlus – Dravet Syndrome European Federation, Italy  
  • Orion Buske – Gene42, Canada 
  • Laurie Conklin – Janssen, USA 
  • Elin Haf Davies – Aparito, London, UK 
  • Stephen Groft – NIH, USA 
  • Adam Hartman – National Institute of Neurological Disorders and Stroke at NIH, USA 
  • Daria Julkowska – Inserm, France 
  • Yeonju Kim – National Research Institute of Health, South Korea 
  • Thomas Klopstock – LMU Munich, Germany 
  • Rima Nabbout – Université Paris Descartes, France 
  • Harumasa Nakamura – National Center of Neurology and Psychiatry, Japan 
  • Kim Nielsenn – Copenhagen University Hospital, Denmark  
  • Anne Pariser – National Center for Advancing Translational Sciences at NIH, USA 
  • Jose Carlos Pastor-Jimeno – University of Valladolid, Spain 
  • Maurizio Scarpa – Udine University Hospital, Italy 
  • Ralph Shuster – Federal Ministry of Education and Research, Germany 
  • Maureen Smith – Canadian Organization for Rare Disorders, Canada 
  • Domenica Taruscio – Istituto Superiore di Sanità, Italy