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John J. Castellani

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Extending Rare Disease Awareness Beyond Just One Day

Posted: 03/08/11 05:40 PM ET

This past Monday was Rare Disease Day, a day dedicated to raising awareness of the myriad little-known conditions that cumulatively affect more than 25 million Americans despite having very small individual patient populations.

This is an important effort. But once Rare Disease Day passed, most of us went back to our lives, leaving behind this day of awareness.

Those who did not leave it behind are the patients, their caregivers, their friends and their families. That is why, while we certainly support the goal behind Rare Disease Day, we hope that it becomes the springboard for a larger, ongoing dialogue about the challenges behind rare disease research and what can potentially be done to facilitate the development of orphan drugs (the medicines to treat diseases that affect fewer than 200,000 Americans -- though roughly 80 percent of rare diseases affect fewer than 6,000 patients in the U.S.) and to bring those medicines to the patients who need them.

That's not to suggest that no research is done in this field. Quite the contrary: according to a recent survey conducted by PhRMA, 460 medicines are currently in development for rare diseases. This represents a fairly significant increase -- one that is most certainly associated with the 1983 passage of the Orphan Drug Act (ODA).

After all, in the 1970s, there were fewer than 10 new drug approvals to treat rare diseases. Just a decade later, in 1989, our first report on the subject found 133 medicines in development for rare diseases. The number jumped to 176 in 1991, to 303 in 2007 and to 460 today.

Though the incentives provided by the ODA certainly jump-started this research, it was further facilitated by other advances, such as increased awareness and improved science.

But with roughly 7,000 different rare diseases to target, those 460 medicines -- even along with the more than 300 approved since the act was passed -- are just a start. That's why it's time for us to begin a dialogue about how to build upon the ODA to create an environment in the U.S. that is even more conducive to rare disease research.

The need for new medicines to treat these diseases -- more than half of which afflict children -- is great. In fact, many already-approved medicines were the first approved to treat their intended diseases; previously, medicines may have targeted the symptoms, but not the diseases themselves.

Unfortunately, the challenges are equally great. Many of these diseases are so little understood, patients may go years before receiving an accurate diagnosis, thereby limiting the pool of potential clinical trial participants.

Combined with such already small patient populations, it can be nearly impossible for biopharmaceutical research companies to enroll enough clinical trial participants to meet the Food and Drug Administration's demands. Similarly, clinical trials require medical experts, and many little-known diseases do not offer a wide selection.

In addition, as with other biopharmaceutical products, medicines that would treat rare diseases carry with them the need to balance the potential risk with the benefit that the medicine provides.

However, that balance between patient access and safety can be particularly difficult to evaluate when a rare disease, left untreated, has devastating or fatal consequences. For example, a medicine that can help control infantile spasms, in which young victims can suffer hundreds of seizures a day, carries the risk of damaging peripheral vision -- a risk that certainly has a significant impact on patients. But for patients who previously have not had treatment options available to them, the benefit may greatly outweigh the risk by helping to control the painful disease.

Because of these and other challenges and burdens, rare disease R&D can be significantly more expensive and time-consuming than other biopharmaceutical research, which itself can require an investment of $1.3 billion and 10-15 years for the development of an average new medicine.

There may be ways to make the road to patients less arduous to traverse for orphan drugs and the biopharmaceutical research companies that are dedicated to developing them. A renewed focus on the regulatory pathway for orphan drugs and increased harmonization between the U.S. and foreign regulatory systems could help companies navigate the process more stealthily.

Meanwhile, positive policies like the Orphan Drug Act help to spur innovation in the field by providing fair incentives to the companies that accept the burden, cost and risk of entering this field of research.

We don't yet have the answers. But we hope that awareness of rare diseases extends beyond a single day, drawing attention not just to the diseases, but to the challenges. And we believe that increased awareness should generate a greater dialogue -- one that will ultimately lead to action in the form of support from policymakers who have the opportunity to help spur this life-saving work.

Orphan drug research, as with all biopharmaceutical research, can be risky. However, the benefits are more than worth it: bringing a first-in-kind medicine to underserved patients, and providing them with hope for the future, is its greatest reward.

By John J. Castellani, President and CEO of the Pharmaceutical Research and Manufacturers of America, and Gregg LaPointe, CEO of Sigma-Tau Pharmaceuticals, Inc.