Advancing Rare Disease Treatments in the COVID-19 Era and Beyond

Challenges and opportunities

Rare diseases, typically defined as conditions affecting fewer than 200,000 people in the U.S., fewer than five per 10,000 in the EU, and fewer than 50,000 in Japan, collectively affect around 400 million people globally, imposing high disease and caregiver burdens. These serious or life-threatening conditions include genetic defects, autoimmune disorders, infectious diseases, neurological disorders and certain cancers.

Legislation, such as the U.S. Orphan Drug Act of 1983, the EU Regulation on orphan medicines in 2000, and the U.S. 21st Century Cures Act in 2016, has spurred advancements in rare disease treatments. International collaboration is further supported by initiatives like the Rare Diseases Clinical Research Network and the European Organisation for Rare Diseases (EURORDIS), which improve research quality and cross-border health care access. Despite more than 5,700 orphan drug designations by the U.S. FDA, only 16.3% have been approved, with a similar trend in the EU, resulting in only 5% of rare diseases having approved therapies. Nonetheless, recent high numbers of orphan drug designations indicate ongoing interest in developing treatments, even during the COVID-19 pandemic. 

There are approximately 7,000 rare diseases, and many of the approximately 400 million affected people around the world suffer from high disease burden and limited treatment options. The significant impact of rare diseases on patients and caregivers emphasizes the need for continued advancements in treatments. Despite legislative milestones, only a small percentage of rare diseases currently have approved therapies.  

This paper discusses: 

• Challenges in conducting rare disease research 
• The importance of patient involvement and international collaboration 
• Decentralized clinical trial (DCT) approaches and digital enablement  
• Technological advancements to improve the design and execution of rare disease studies, ensuring better treatment options and outcomes for patients