MedCity Influencers

“Success” in the world of orphan drug development: it’s a matter of perspective

According to data from a variety of sources, there are between 6,500 and 7,000 disorders that meet the criterion for definition as an “orphan disease” here in the USA: a prevalence of < 200,000 patients living with the particular disorder at any specific point in time. To date, the U.S. Food & Drug Administration (FDA) […]

According to data from a variety of sources, there are between 6,500 and 7,000 disorders that meet the criterion for definition as an “orphan disease” here in the USA: a prevalence of < 200,000 patients living with the particular disorder at any specific point in time. To date, the U.S. Food & Drug Administration (FDA) has approved “orphan drugs” to treat rather more than 250 of these disorders (with greater or lesser degrees of efficacy and safety).

Considering the situation in 1983, at the time of original passage of the Orphan Drug Act, this is a major success. … “An average of eight or nine new orphan drugs a year from the past 30-odd years! Wow! That’s a pretty good hit rate!”

Well … of course that’s one way to look at the situation … but there’s another … from the perspectives of those patients (and their family members) with the other 6,250 to 6,750 rare disorders for whom there are still no approved orphan drugs at all. Looked at from their point of view, the situation is a disaster: … “You mean that after nearly 30 years we have only managed to find effective therapies for about 3.5% of all the rare diseases we know of in America today!?”

Earlier this month, Alexion Pharmaceuticals, Inc., reported the company’s first quarter results for 2012. According to the company’s press release, it had net product sales for the quarter of $244.7 million, based exclusively on sales of a single orphan product (eculizumab [Solaris]), which is approved for the treatment of two orphan diseases — paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS). Projected net product sales for Alexion for calendar year 2012 are now projected to be between $1.065 and $1.085 billion. Clearly, the ability to develop and bring to market treatments for orphan diseases can be a profitable business … even if it does require very hard work, highly skilled and experienced personnel, and a good dose of luck along the way. This success offers strong validation of the premise behind the Orphan Drug Act … that a combination of guaranteed market exclusivity and a special focus on orphan drugs at the FDA would stimulate the for-profit drug development community to see orphan disorders as a commercially valid area in which to invest.

In the past few years, we have, indeed, seen not only small biotech companies but also members of the large, multinational, pharmaceutical industry start to invest seriously in the orphan drug space. Sanofi bought Genzyme (a company founded on the development of drugs to treat very rare disorders). Pfizer, GlaxoSmithKline, and others have developed special orphan disease units within their R&D and commercial areas of interest. The not-for-profit community has also been investing in rare disease research in ways exemplified by such organizations as the Cystic Fibrosis Foundation, the Spinal Muscular Atrophy Foundation, and several others. And healthcare-specific venture capital companies have (more often than not) been very willing to invest in the rare diseases space.

For all that, however, the pace at which new products are coming to market is disasterously slow when looked at from the patient’s point of view. At the present rate of progress, it will take nearly another 400 years to develop effective drugs for the treatment of just half of the known rare diseases affecting the American population. How would this make you feel if you came from one of the families in which one of these disorders was common?

We are making progress … but the progress is too slow. Research into orphan diseases is seriously underfunded when one considers just how much we learn from studying these disorders. To quote Francis Collins (the current director of the National Institutes of Health … “What we learn from rare disorders often has profound consequences for our understanding of more common conditions” sometimes abbreviated to “Rare is Common.”

A critical factor in why research into rare disorders is so poorly funded is that most of us don’t even realize how common rare disease are. The National Organization for Rare Disorders estimates that there are between 25 and 30 million men, women and children living in America today with a rare disorder … That’s one in every 10 Americans. And that’s before we start counting the parents or children of other family members affected by the patient and his or her condition. If you were a checkout clerk working at the local supermarket, that means you may interact with dozens of people with rare disorders every single day. By comparison, the number of Americans living with any one of the 200 or so recognized forms of cancer is about 12 million (but of course many of the rare forms of cancer also meet the definition of “rare disorders”).

Historically, the rare disease community has been very effective and efficient at talking to its own members. However, it has been less good at raising real public awareness of the size of the problem we are dealing with. It is high time that we found a way to bring this problem out of the shadows and commit to a major acceleration in the ability to find effective and safe treatments for the under-served members of our society who are going without any significant hope of treatments for rare disorders that are often all too predictable (because of familial and ethnic genetics and other factors).

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