Responding to Rare Diseases—The Orphan Drug Act in Action

Posted by Paddy Wall on Feb 22, 2021 11:17:31 AM

Ahead of Rare Disease Day, we are taking a look at the Orphan Drug Act, which has helped to bring drugs and biologics to market in the fight against rare diseases since 1983. With more than 800 indications and 560 distinct drugs developed up to 2019, the impact of this act has been undeniable. Today, almost 40 years since its inception, the Orphan Drug Act remains a vital pathway for the development of meaningful medical advances and rare disease treatments.


Orphan Drug Origins

What constitutes an “orphan drug”? Simply put, orphan drugs are treatments to address diseases so rare that research and development of the drug is often unprofitable. The FDA defines a rare disease or condition as one that affects fewer than 200,000 people in the US. In Europe, a disease is considered to be rare when it affects 1 person per 2000. Yet, with at least 7,000 known “rare diseases” defined, approximately 300 million people worldwide are affected by a condition termed “rare”. Sadly, only a few hundred of those 7,000 diseases have approved treatments.


Because many of the treatments for these diseases were often discontinued (or “orphaned”) due to lack of development or production funding, the FDA established the Orphan Drug Act to encourage the development of drugs that address rare diseases.


Exclusive Incentives

An orphan drug designation qualifies sponsors for substantial incentives, including:

  • Tax credits for clinical testing
  • Waiver of the Prescription Drug User Fee
  • Potential for market exclusivity after approval for up to 7 years


The Orphan Drug Act also provides additional funding for sponsors through a grant program for clinical and natural history research.


Impact of the Orphan Act

 The Orphan Drug Act has re-routed the therapeutic road for rare diseases. It has provided the creators and advocates of promising treatments with a greater chance to reach the market and improve lives. The act has also heightened awareness of oft-forgotten patients suffering from life-altering diseases and conditions.


While many products have been approved to treat rare diseases, most rare diseases still lack approved treatment options.


A 2017 study commissioned by the National Organization for Rare Disorders (NORD) sought to measure the impact of orphan drugs on overall healthcare and prescription drug spending. The study disproved the common misconception that the approval of orphan drugs dramatically increases healthcare costs, concluding instead that orphan drugs accounted for only 7.9% of total US drug sales.


Critics of the Orphan Act

Much like many political and social doctrines intended to do good, the Orphan Drug Act may have unintentionally spurred some negative effects in the industry. Some critics think that pharmaceutical companies have taken advantage of the Orphan Drug Act by turning products intended to treat a small number of patients into million- and billion-dollar sellers.


A 2017 investigation yielded evidence that some drug developers sought to market orphan drugs for indications different than those first approved via orphan status. It further found that almost one-third of orphan drugs approved by the FDA since the program began have been either for repurposed mass market drugs or drugs that received multiple orphan approvals.


The COVID-19 pandemic shone a spotlight on more potential loopholes in the Orphan Drug Act:


  • When the FDA granted Gilead an orphan drug designation for remdesivir to treat COVID-19, criticism immediately followed. Many believed the designation was inconsistent with the purpose of the Orphan Drug Act, but the FDA argued that at the time of Gilead’s application for designation, there were few confirmed cases of COVID-19 in the US and therefore, remdesivir met designation criteria.
  • A recent paper also discussed the possible high price impact of other orphan drugs that have been now been repurposed for potential treatment of COVID-19.


Which Act Follows Next?

According to Janet Maynard, the FDA’s Director of the Office of Orphan Products Development, orphan drug designation requests have stabilized at about 500 per year since 2016, although there has been a marked increase in two areas: pediatric diseases and gene therapies. As 80% of rare diseases are of genetic origin, this is extremely promising for patients with rare diseases. Innovation in rare disease is of utmost importance to families passing rare diseases through generations. While it may not be perfect, the Orphan Drug Act has brought hope to communities suffering from rare diseases.

New Call-to-action


Topics: Rare Diseases, Drug Development, Rare Disease Trial, pediatric

Posts by Topic

see all

Popular Posts