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Institute Report
Orphan Drugs in the United States
Rare disease innovation and cost trends through 2019
Dec 03, 2020
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About the report

Significant and transformative innovations for patients with rare disease have become available in 2019, highlighting the commitment made by manufacturers and regulators to these patients. The significant increases in the numbers of orphan approvals has raised orphan share of invoice spending from 2% in 1992 to 11% in 2019. However, rare disease patients continue to face hurdles in receiving treatment despite the increase in approvals and use of orphan medicines. In addition, access to rare disease medicines have been confounded by the COVID-19 pandemic, as the challenges rare disease patients face in starting new treatments have been exacerbated by widespread health system disruptions. This report discusses the current innovation in rare disease treatments, trends in overall drug spending levels and growth, and the effect of COVID-19 on patients.

Report Summary

In 2019, there were significant advances in treatments for rare diseases, underscoring the commitment to patients by manufacturers and regulators. The report finds that orphan indications have now reached 838 in total since the passage of the Orphan Drug Act and have been granted to 564 distinct drugs, with transformative innovations including cutting-edge gene and nucleotide therapies. In addition to novel treatments, continued investment and commitment by manufacturers to pursue multiple orphan indications has led to increases in the number of patients eligible for treatment. For example, as of 2019, 90% of cystic fibrosis patients are eligible for targeted treatment, compared to only 4% in 2012. 

In addition to innovation, the report also examines overall levels of orphan medicine spending and cost and finds that invoice spending on orphan indications accounted for 11% of the United States’ $518 billion in invoice spending in 2019. Another significant finding is that approximately 39% of drugs with orphan indications cost more than $100,000 annually, but the average annual cost of an orphan treatment was well below, at $32,000. The ongoing COVID-19 pandemic has negatively affected new orphan prescription starts, which are cumulatively down 21% since the beginning of the pandemic. This means that to-date, almost 48,000 new therapy starts have not taken place, a substantial impact to rare disease patients.

Key Findings


The total number of orphan indications reached 838 from the passage of the Orphan Drug Act to the end of 2019 and were awarded to 564 distinct drugs.

Cumulative Number of Orphan Indications and Distinct Drugs with at Least One Orphan Indication by Year of Marketing Approval

  • In the last three years, there have been 246 new orphan indications, which is approximately 30% of the total indications ever granted under the Orphan Drug Act (ODA). 
  • The number of approved orphan indications is growing faster than the number of drugs, as some drugs have multiple indications. 
  • In 2019, 25% of drugs had more than one orphan indication, as multiple orphan indications for the same medicine are increasingly common, particularly in cancer and autoimmune diseases

A continued investment by manufacturers in cystic fibrosis has expanded the treatable patient population to 90% of estimated prevalence.

Timeline of Cystic Fibrosis Orphan Indications and Share of Eligible Treatment Population, 2012–2019
  • Continued investment by manufacturers in orphan indications has brought critical treatments to underserved patients in a relatively short amount of time, as seen in the cystic fibrosis patient population. 
  • In 2012, ivacaftor (Kalydeco) received its first orphan indication for patients with a G551D mutation in the CFTR gene, found in approximately 4% of patients.
  • Subsequent label expansions for ivacaftor as well as approvals and label expansions of ivacaftor/lumacaftor (Orkambi), ivacaftor/tezecaftor (Symdeko), and the 2019 approval of Trikafta have expanded the treatable patient population to 90% of prevalence. 

Orphan indication invoice spending accounted for 11% of United States’ invoice spending, and totaled $58 billion in 2019.

Invoice Spending on Orphan Drugs in the United States 1992–2019, US$Bn

  • The total invoice spending on orphan indications accounted for $58 billion of total invoice spending in 2019, while $378 billion was spent on non-orphan drugs. 
  • $82 billion of invoice spending was on the non-orphan indications of drugs that have both orphan and non-orphan indications.
  • The significant increase in the numbers of orphan approvals has raised orphan share of invoice spending from 2% in 1992 to 11% in 2019, and up from 7% of invoice spending in 2013.

Since the start of the COVID-19 pandemic, new therapy start prescriptions are cumulatively down 31%, while new patients initiating orphan drug therapy are down 21%.

Cumulative Change from Baseline in Total Market and Orphan Drug New Therapy Starts During COVID-19
 
  • During the ongoing COVID-19 pandemic, new therapy starts (where a patient has not been on a treatment in the same therapy class in the last year) have been significantly affected, suggesting new orphan disease diagnoses are not occurring. 
  • However, orphan drug new start prescriptions have been more insulated from health system disruptions than other segments, with a cumulative decrease of 21% in new start prescriptions from baseline.
  • As rare diseases typically go undiagnosed longer than more common diseases and require many physician visits to receive a confirmed diagnosis, COVID-19 could be delaying initial diagnosis for many patients with rare diseases.
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