Rare Disease Treatment Access Working Group

Introduction

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.

Objectives

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

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