The Impact of ACA And FDASIA On Rare Disease Drug Development: New Opportunities For Innovation


Rare or “orphan” diseases are defined as conditions that affect fewer than 200,000 Americans. Those numbers seem pretty small.

Until you note that there are more than 7,000 “rare” diseases, and they impact more than 30 million people in the U.S. These diseases have always posed a challenge to researchers and physicians.

Because patient populations are so low, it can be economically difficult for drug companies to devote resources to drug development. And because there are small groups of patients available for trials, it can be frustrating for researchers. Doctors typically don’t have much experience treating these diseases, and for many patients just getting a diagnosis may take years.

The Orphan Drug Act of 1983 gave a variety of incentives—grants, contracts for trials, tax credits, and extended marketing rights—to drug manufacturers so they could afford to focus more research on rare diseases, and the impact was significant. In the decade previous to the act, less than 10 therapies for rare conditions were created. Since the implementation of the act, the FDA has designated more than 2,200 therapies as orphan drugs, has approved 360, and has another 460 in development.

That’s a big improvement, but more obviously needs to be done: over 90% of rare diseases still don’t have an FDA approved treatment. The Affordable Care Act—along with other recent legislation—may provide some addition momentum for treating people with rare diseases.

The ACA doesn’t directly address rare disease research, but it does address some issues for patients of rare diseases. The act’s elimination of restrictions on pre-existing conditions means that rare disease patients can get treatment that previously wasn’t available under their insurance plans. And the ACA removes lifetime limits on treatment—important for rare diseases, since many drugs are extremely expensive and patients could quickly hit ceilings for coverage. So from a patient perspective, there are more avenues for seeking diagnoses and treatments.

But the ACA doesn’t address all rare disease issues. Most plans limit coverage to in-network providers, and a challenge for rare disease treatment is that it frequently requires going outside a network to a specialist that happens to have knowledge of a condition. This can be a limiting factor. Further work is being done to address this, but it will still require some legislative modification.

Another piece of legislation, however, promises a much bigger immediate impact. The FDA Safety and Innovation Act of 2012 (FDASIA) includes a provision called the “breakthrough therapy designation,” which helps fast-track drug development for serious or life-threatening illnesses.

According to the FDA, a breakthrough therapy is a drug:

  • intended alone or in combination with one or more other drugs to treat a serious or life threatening disease or condition and
  • preliminary clinical evidence indicates that the drug may demonstrate substantial improvement over existing therapies on one or more clinically significant endpoints, such as substantial treatment effects observed early in clinical development.

If the FDA designates a drug as a breakthrough therapy, the agency will expedite its development and review. In addition, any drug that is requested to have a breakthrough therapy designation If a drug is designated as breakthrough therapy, FDA will expedite the development and review of such drug. All requests for breakthrough therapy designation will be reviewed within 60 days of receipt, and FDA will either grant or deny the request.

The FDASIA also includes pediatric rare diseases as part of its programs, which provides focus for another class of afflictions that have received limited attention.

Timing of the FDASIA is important. Drug companies have in recent years begun looking at rare disease treatments as potential profit centers, as generics and patent expirations have reduced margins in mainstream areas. And with growing potential for drugs based on genetic modification—many rare diseases are caused by genetic mutations—there are numerous new reasons for drug manufacturers to pay attention to rare disease treatment.


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