Rare Disease Treatment Access Working Group


Treatments are often unavailable for rare disease patients, especially in low-and-middle-income Countries. Reasons for this include lack of financial support for therapies and onerous regulatory requirements for approval of drugs. Other barriers include lack of reimbursement, administrative infrastructure, and knowledge about diagnosis and drug treatment options.
The goal of this Working Group, leaving no one behind, requires that access to treatments be available for rare disease patients.


  1. Create a list of standard-of-care products for rare diseases and make the list available to countries throughout the world. The list should be updated periodically.
  2. To identify the barriers to accessing rare disease drugs, particularly in low-and-middle income populations.

Plans and Timeline

  • Formation of the Working Group and kick-off of discussions via teleconferences (Q1 2020) 
  • Mapping of existing orphan drug, rare disease drug lists; discussion on the specifics (Q2-Q4 2020) 
  • Produce a White Paper on essential medicinal products for rare diseases (Q2 2021) 

Members (20)

  • Samuel Agyei Wiafe – Rare Disease Ghana Initiative, Ghana 
  • Alba Ancochea – Iberoamerican Alliance for Rare Diseases, Spain 
  • Gareth Baynam – Western Australia Department of Health, Australia 
  • Rachel Bishop – NIH, USA 
  • Bruce Bloom – Healx Limited, UK 
  • Marc Dooms – UZ Leuven, Belgium 
  • William Gahl – NIH, USA 
  • Brian Godman – Karolinska Institute, Sweden 
  • Steve Groft – NIH, USA 
  • Virginie Hivert – Eurordis, France 
  • Katharina Hohenfellner – Klinikum Rosenheim, Germany 
  • Béla Melegh – University of Pecs, Hungary 
  • Ramaiah Muthyala – Indian Organization for Rare Diseases, USA  
  • David Pearce – Sanford Health, USA 
  • Filippo Pinto e Vairo – Mayo Clinic, USA 
  • Manuel Posada – Rare Diseases Research Institute, Instituto de Salud Carlos III, Spain  
  • Wendy van Zelst-Stams – Radboud University Medical Center, The Netherlands 
  • Susanne Weissbacker – Takeda Pharmaceuticals, Singapore
  • Durhane Wong-Rieger – Rare Diseases International, Canada 
  • Rachel Yang – National Rare Disease Registry of China