2018-美国的罕用药_罕见疾病治疗的发展趋势（英文版）-1mb

Summary of Orphan Drugs in the United States (October 2018)

Core Content

This report provides an analysis of orphan drugs in the United States, highlighting their growth, challenges, and impact on the healthcare system. It updates previous research from the QuintilesIMS Institute and is funded by the National Organization for Rare Disorders (NORD). The report discusses the Orphan Drug Act of 1983, the evolution of orphan drug spending, and the unique characteristics of rare diseases and their treatments.

Main Points

• Rare Disease Overview
  There are approximately 7,000 rare diseases affecting 25–30 million people in the United States, with over half being children. Despite this, only 5% of these diseases have effective treatments.

• Orphan Drug Market Growth
  The number of orphan drug approvals has increased dramatically in recent years, with the FDA approving 80 new orphan indications in 2017 and 57 in the first eight months of 2018. This marks the highest number of approvals since the Orphan Drug Act was passed in 1983.

• Impact of the Orphan Drug Act
  The Orphan Drug Act of 1983 has been instrumental in fostering the development of orphan drugs. Key elements include:

  • Rare Disease Definition: Diseases affecting fewer than 200,000 people in the U.S. or those with a high cost of development but limited market recovery.
  • Market Exclusivity: Seven years of exclusivity for orphan drug sponsors, longer than traditional IP protection.
  • Tax Incentives: The Orphan Drug Tax Credit (ODTC) was reduced from 50% to 25% of clinical testing expenses in 2017, the first reduction since the Act was enacted.
  • Clinical Research Subsidies: The Orphan Product Grant program provides funding for clinical testing, helping over 600 therapies reach the market.

• Orphan Drug Therapies
  In 2017 and 2018, significant advancements were made in orphan drug therapies, including:

  • Cerliponase alfa (Brineura): First therapy for late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), a lysosomal storage disorder.
  • Nusinersen (Spinraza): First effective treatment for spinal muscular atrophy (SMA), a neuromuscular disease.
  • Voretigene neparvocac (Luxturna): First gene therapy approved for an ophthalmic disease caused by RPE65 mutations.
  • Emicizumab (Hemlibra): First preventive non-blood product for hemophilia A with Factor VIII inhibitors.
  • Edaravone (Radicava): First treatment for ALS in the U.S. in 20 years.
  • Deflazacort (Emflaza): New formulation of an older steroid medicine for Duchenne Muscular Dystrophy (DMD).

• Cost and Usage Trends

  • Orphan drugs are often expensive due to their small patient populations. The median annual cost for an orphan drug in 2017 was over $46,800.
  • The top ten orphan drugs used by the greatest number of patients averaged $9,676 per year.
  • There is an inverse relationship between cost and usage volume, with more expensive therapies used by fewer patients.

• Drug Spending Trends

  • Total U.S. drug spending in 2017 was $451 billion.
  • The share of specialty medicines in total drug spending rose from 11% in 1997 to 43% in 2017.
  • Orphan drugs account for 10% of total drug spending, up from 4% in 1997.
  • Orphan drugs represent 87% of orphan drug spending and are typically specialty medicines.

• Challenges in the Orphan Drug Market

  • Orphan drugs face challenges such as high costs, limited patient populations, and the need for increased awareness among medical professionals and policymakers.
  • The financial burden on patients is exacerbated by specialty formulary tiers, co-pays, and limited distribution networks.

Key Information

• Number of Orphan Drugs: As of August 2018, 503 orphan drugs had been approved.
• Orphan Indications: 731 orphan indications were approved since 1983.
• Patient Population: The average estimated patient population per orphan therapy was 5,730, with a median of 519.
• Cost Trends: Median annual cost for an orphan drug in 2017 was $46,800, while the top ten orphan drugs averaged $9,676 per year.
• Spending Share: Orphan drugs represented 9.6% of total U.S. drug spending in 2017.
• Specialty Medicines: Specialty medicines accounted for 43% of total U.S. drug spending in 2017, with 87% of orphan drug spending falling within this category.

Conclusion

The Orphan Drug Act has significantly advanced the development and approval of orphan drugs, leading to a surge in new therapeutic options for rare disease patients. However, challenges such as high costs and limited patient populations persist. The U.S. drug market is evolving, with a growing emphasis on specialty and orphan drugs, reflecting the increasing importance of precision medicine and targeted therapies for rare diseases.