Orphan Drug Development Guidebook


To enable the eco-system of research and drug development in rare diseases to achieve IRDiRC goal 2, a quantum change is needed in the way drugs are developed.
To enable this change, new practices should become standard elements of the development framework. However, in order to fully integrate these new elements within a defined development plan generating better data quality and shorter development timelines and lower development costs/ better R&D efficiency, the entire development framework should be re-engineered.
The link to the Orphan Drug Development Guidebook Materials can be found below.


The “Orphan Drug Development Guidebook” project aims at creating a simple guidebook for academic and industrial drug developers describing the available tools and initiatives specific for rare disease development and how to best use them.
The guidebook will include fact-sheet descriptions of the new development tools, a series of standard cases of drug development defining “how” and “when” to use these tools and engage in these initiatives, and a series of practical check-lists of what to consider at each phase of development.

Members (22)

The Orphan Drug Development Guidebook Task Force members include:

  • Annemieke Aartsma-Rus – Leiden University Medical Center, The Netherlands
  • Alessandro Aiuti – San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), San Raffaele Scientific Institute, Italy
  • Diego Ardigo – Chiesi Farmaceutici S.p.A., Italy
  • Dimitrios Athanasiou – World Duchenne Organisation, Greece
  • Laurie Conklin – ReveraGen, United States
  • Simon Day – Clinical Trials Consulting & Training, United Kingdom
  • Mariette Driessens – VSOP, The Netherlands
  • Michela Gabaldo – Fondazione Telethon, Italy
  • Marlene Haffner – Haffner Associates, LLC, USA
  • Virginie Hivert – EURORDIS-Rare Diseases Europe, France
  • Eric Hoffman – ReveraGen, United States,
  • Anneliene Jonker – University of Twente, the Netherlands
  • Sangeeta Jethwa – Roche, Switzerland
  • Eri Matsuki – Japan Agency for Medical Research and Development, Japan
  • Ana Mingorance – Dracaena consulting, Loulou Foundation, Dravet Syndrome Foundation, Norway/Spain
  • Thomas Morel – KU Leuven, Belgium
  • Daniel O’Connor – MHRA, United Kingdom
  • Anne Pariser – National Center for Advancing Translational Sciences at NIH, USA
  • Caridad Pontes – Catalan Health Service, Spain
  • Ken Sakushima – Pharmaceuticals and Medical Devices Agency, Japan
  • Maurizio Scarpa – European Reference Network for Hereditary Metabolic Diseases (MetabERN), Udine University Hospital, Italy
  • Richard Yang – Reflection Biotechnologies Limited, Hong Kong, China

Plans and timeline

  • April 2020: Peer Reviewed Commentary (Orphan Drug Development Guidebook) and materials available (see section below)
  • June 2019: Further discussion with experts, drafting of materials
  • December 2018: Workshop with external experts, Dublin, Ireland
  • November 2018: Second teleconference of the Task Force
  • October 2018: First teleconference of the Task Force
  • June 2018: Internal drafting of material

Orphan Drug Development Guidebook Materials

The materials constituting the “Orphan Drug Development Guidebook” can be found here.

Boosting delivery of rare disease therapies: the IRDiRC Orphan Drug Development Guidebook. Nature Reviews Drug Discovery

Comments and suggestions

To submit your comments and suggestions on this Task Force, please contact us by completing this form.