What are the challenges when translating rare disease research into clinical development?

In Clinical Development by Matt Turner

rare diseases, orphan drugs, research & development6000-8000 rare diseases. A very small percentage of orphan drugs to treat. There is still so long to go and so much research to be done in the field of rare diseases. Due to the very nature of rare diseases, little if anything is known about many rare diseases and therefore successful development of more orphan products requires strong basic research and understanding of the natural history. This foundation of understanding is essential when translating discovery and innovation into clinical development.

But what are the major challenges to translating rare disease research into a clinical context to therefore demonstrate safety and efficacy of a rare disease treatment?

  • Understanding the variation of the disease within a population.
  • Deep knowledge of the natural history of disease
  • Identification of and access to human clinical samples and patient populations
  • Overcoming the rarity itself and lack of knowledge
  • Regulatory requirements for clinical design, endpoints and measurements maintained same as for drugs not designated as orphans.
  • How predictable is the preclinical model?
  • Overcoming the limited amount of data
  • (In a commercial setting) evaluating the financial viability of the potential product.
  • Understanding natural progression of disease in order to develop protocols and size trials.
  • Restrictions surrounding data or patient registries
  • Getting clarity on the appropriate biomarkers to show success in humans
  • Different expectations of various global regulatory bodies.
  • The need for an electronic database system would simplify the processes
  • Gaining funding and capital investment into your innovation
  • The level of need for data in application. Is data in in vivo models sufficient or is human data required?
  • Identifying the application of your discovery, then obtaining orphan designation for the rare disease indication

As a follow on, why not take a look at some of our respondents when we asked them what are the benefits of adaptive clinical trial design?

You can also read up on what are the major challenges of orphan drug clinical trial design.