Rare, Ultra-Rare & Hyper-Rare: A Search for Paths Forward — 2024 NEXT Report

March 15, 2024

Over 40 years after the Orphan Drug Act of 1983, the definition of rare disease as it applies to the Act is still in question in the United States. When the law was passed, the threshold in the U.S. was set at 200,000 to incentivize drug development companies to develop rare disease therapies. Europe, on the other hand, uses a percentage-based model (one person in 2,000) for its threshold. The U.S. population has grown from 234 million in 1983 when the Act passed to almost 332 million in 2021. In other words, diseases with patient populations of more than 116,000 in 1983 would no longer qualify as rare diseases today. Establishing parameters for the terms rare, ultra-rare, and hyper-rare are essential in the development of therapies, pricing these therapies at affordable rates, and increasing access to therapies for the rarest of rare diseases.

This is one of the several topics covered in the 2024 NEXT Report.

Download the 2024 NEXT Report

The NEXT report provides an overview of developments across the rare disease landscape and highlights trends in research, diagnosis, development, and treatment, as well as the changing regulatory and financial environment. Other topics covered include:

  • The promise and challenges of emerging gene-editing and other genomic medicines
  • How changing sequencing technologies are improving diagnostic success
  • How non-profit and for-profit entities are crafting business models to enable sustainable development of N-of-1 therapies
  • The need for regulators to exercise their flexibility to address ultra-rare therapies
  • How drug developers or working to rethink payment models for one-time, curative therapies

Download the 2024 NEXT Report

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