Picture of The Future of Orphan Drugs

The Future of Orphan Drugs

November 2016


Orphan Drugs: Future opportunities and challenges  

The orphan drug sector is booming. Record product approvals, robust pipelines and regulatory incentives. But will the good times last? As the market matures expect increasing competition, clinical research pressures and mounting payer scrutiny. It’s time to plan for the future.

The Future of Orphan Drug provides a 360-degree scan of the horizon for rare disease therapies. Through primary research with leading industry experts, the report identifies key strategic and tactical pressure points for companies seeking to consolidate or enter this high-growth space.

“You will see more companies getting into this space. We will see more novel treatments come out for diseases that never had a treatment. There will be more patient involvement in the process as we go forward.”
Tom Croce
Head of Global Patient Advocacy, Shire

Leading Pharma Experts Answer Key Questions:

  • Market drivers: What’s driving investor and Pharma interest in orphan drugs?
  • Rising competition: What impact could rising competition in key sectors such as Duchenne’s Muscular Dystrophy have on prices, market access and innovation?
  • Education is key: How can orphan drug developers help payers and regulators determine the value of drugs for rare disease for which clinical knowledge is limited?
  • Pricing: Payer scrutiny is expected to increase as orphan drug price continue to rise. How can industry proactively respond to demonstrate value and support pricing?
  • Clinical trials: As the orphan drug market matures what are the growing challenges for the design of, and recruitment to, clinical trials and why is patient engagement so critical?
  • Gene therapy: With the first products coming to market, will gene therapy unlock the full potential of the orphan drug market?

Key Topics Explored

  • The drivers of pharma and investor interest in the potential of orphan drugs are demonstrated, as the sector is expected to achieve total annual sales of US$178 billion by 2020 - a 2014-2020 CAGR of 10.5%.
  • The importance of KOLs is expected to increase in research, usage and payer/regulator advocacy.
  • Rising competition means orphan drug marketing will have to evolve; but how and what impact could this have on smaller companies/biotechs who lack commercial infrastructure?
  • Big Pharma will have to become more flexible if they are to remain competitive in the orphan drugs market in the future
  • Delivering innovative products that make a meaningful difference to patients, physicians and payers are critical “must haves” for orphan drug commercial success in the future.


  • Executive, biopharmaceutical company
  • Tom Croce, Head of Global Patient Advocacy, Shire
  • Anne Marie Finley, President, Biotech Policy Group
  • Tony Hall, Co-Founder of FindaCure
  • Chris Garabedian, Former President and CEO, Sarepta Therapeutics
  • Timothy J. Miller, Ph.D., President & CEO, Abeona Therapeutics
  • Francois Nader, MD, Chairman, Acceleron Pharma, Former CEO, NPS Pharma
  • Rare disease executive

Content Highlights

  • The current market for orphan drugs
    • Key findings
    • Orphan drug definition
    • Current market overview
      • The orphan drugs market is increasing in value
        • There are a large number of orphan drugs being approved each year
      • The orphan drugs market is split between blockbuster products and niche therapies
        • New products will continue to drive growth
    • Companies involved in the orphan drugs market
    • The orphan drugs market has benefitted from several positive trends in recent years
      • The orphan drug marketplace is maturing
      • The orphan drugs market attracts strong investment
      • Interest in rare diseases has led to new technologies emerging
    • Current challenges in the orphan drugs market
      • Key stakeholders may lack deep knowledge of rare diseases
      • Certain rare diseases are becoming increasingly competitive
      • Companies are facing increasing attention from payers
  • The future for orphan drug development
    • Key findings
    • New pathways and technologies are expected to advance orphan drug R&D
      • Gene therapy is a promising area for rare disease
      • Academic research will continue to be pivotal for orphan drug development
    • Clinical trials will continue to be the main challenge in R&D
      • Defining endpoints will remain challenging for orphan drug trials
    • The positive direction for regulatory approvals is expected to continue
      • The FDA has well-established processes for rapid approval of orphan drugs
      • The EMA is following suit in establishing a pathway for rapid review of drugs
      • PDUFA VI will also boost the environment for orphan drugs
      • It is hoped there will be greater dialogue between manufacturers and regulators
    • Regulatory agency capacity and knowledge is still a challenge
      • There may be greater scrutiny of products using the orphan drug pathway
  • The future for orphan drug market access
    • Key findings
    • Overall, the orphan drug market access environment is positive
      • Orphan drug prices have historically been very high
      • Orphan drugs have generally enjoyed unrestricted reimbursement and access
    • Increasing scrutiny of orphan drug prices is expected
      • Innovative pricing is seen as a potential differentiator
    • Reimbursement and access is expected to become increasingly challenging
      • Demonstrating value is seen as critical for access in the future
  • The future for orphan drug commercialisation
    • Key findings
    • Traditional sales and marketing strategies are not generally used for orphan drugs
      • Education and awareness will continue to drive orphan drug marketing
      • Increasing competition means orphan drug marketing will have to evolve
    • Stakeholder relationships critically important for commercial success
      • Patient engagement is central
      • Engagement with physicians and payers will continue to play an important role
  • The future outlook for the orphan drugs market
    • Key findings
    • The orphan drugs market offers significant opportunity
      • Specialist companies will continue to lead the orphan drugs market
      • Big pharma’s future in the orphan drugs market is uncertain
    • Three areas of focus identified
      • Knowledge and experience will be critical for future orphan drugs success
      • Collaboration with all stakeholders should be central to corporate strategy
      • Innovation will continue to be rewarded