International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases

Abstract

Rare diseases, which affect over 350 million people worldwide and frequently go undiagnosed or misdiagnosed for years, suffer from sparse and dispersed medical knowledge leading to even rarer approved and effective therapeutic options for patients. A vast, unmet need for research and investment to advance diagnostic capabilities and therapeutic development must be confronted, despite the myriad of challenges faced. Several fundamental shifts are changing the landscape of rare diseases research and development, particularly with the application and extension of results to common diseases and the advancement of personalized medicine initiatives. Collaborative strategies that pool resources and knowledge are vital, including team science, research networks, novel funding models, shared knowledge platforms, and innovative regulatory frameworks. Importantly, patients are also increasingly involved as research partners and funders, pushing for open science and transparency, and breaking down data silos and geographical borders, often enabled by online platforms accessible from across the globe. The International Rare Diseases Research Consortium (IRDiRC), established in 2011, has been working diligently to unify stakeholders (e.g., funding bodies, companies, umbrella patient advocacy groups, researchers, and experts) to seek and drive solutions that aim to accelerate diagnosis and therapeutic development for rare diseases worldwide. Further and future advances will depend on continued collaborations and cooperation among stakeholders, working hand in hand with patients, and exponentially improving research and development efficiency. Critically, engagement with stakeholders from underrepresented populations and less‐developed countries must be prioritized, to enable all people living with a rare disease to receive an accurate diagnosis, care, and therapy.

Figure 1

The rare disease research roadmap and actions by IRD i RC to facilitate diagnoses and therapies for rare diseases.

Figure 2. Orphan drug designations and approvals by the FDA and the EMA between 2001 and 2017

The numbers of both designations and approvals have steadily increased over the years. An orphan drug designation application may be submitted at any point of the drug development process, and when obtained, confers a number of benefits including protocol assistance, a number of financial incentives, and eligibility for marketing exclusivity—the latter comes into effect when marketing approval is awarded.