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Has The Pendulum Swung Too Far in Favor of Rare Diseases?


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on pricing. Here’s a key question: do we want to encourage work on diseases where effective treatments will provide the greatest benefit to the most people, or the ones that are the “easiest” to get approved and reimbursed (and just to be clear, developing treatments for any of these diseases, orphan or not, is really difficult).

Suppose that the trend continues, and some time in the next few years 39 new drugs are all approved for rare diseases. While orphan diseases are defined as having fewer than 200,000 patients at risk, many of drugs developed for these illnesses are used to treat much smaller populations. For example, Sanofi/Genzyme’s imiglucerase (Cerezyme) has been used worldwide to treat only about 5,600 type 1 Gaucher disease patients total (or about 300 patients per year) since the FDA first approved it in 1994. Imagine if each of the 39 drugs approved treated populations of less than 5,000 patients per year. The drugs would treat a total population of less than 200,000 patients in a U.S. population of more than 315 million people or about 0.06 percent of the total population. Even if each drug treated 200,000 people, this would only help about 2.5 percent of the population. Drug companies could still be quite profitable, however, by treating even these very limited patient groups with astronomically priced medicines. My fear is that a large number of biopharma companies will choose the path of least resistance and shift their primary focus to orphan diseases.

No one, including me, wants to see people with rare diseases ignored and doomed to a life without hope of a viable treatment. I think it’s great that the European Commission just committed $187 million in new funding for 26 research projects that they hope will deliver some 200 new therapies for rare diseases. Since there are about six to seven thousand of these disorders (affecting some 25 to 30 million Americans and an equal number in Europe) it will take decades, if ever, to develop effective treatments for all of them. At present there are some 420 medications that have been approved to treat about 250 of these diseases.

However, shouldn’t there be some degree of proportionality between the amount of drug development dollars being expended and the number of patients being treated? Such choices as a society are difficult. It would be wonderful if we had the resources to tackle all medical afflictions, whether they affect 500 people or 5 million per year. And even if there are effective treatments for a particular disease, a substantial problem for people without health insurance (and even for many that do who face huge co-pays) is being able to afford their treatments and medications.

This issue will only become more complicated as the financial screws get tightened on our out-of-control health care system. Medicines that are developed to treat rare diseases may go on to become mainstay drugs for larger populations. Amgen’s blockbuster drug Epogen, for example, was originally approved for an orphan indication, but was eventually used to treat much larger numbers of patients. Novartis is banking on finding expanded uses for their drug canakinumab (Ilaris), which treats a small subset of diseases affecting only 6,000 people in the world. Drugs that target particular mutations in one disease may come to be more widely used if a similar genetic defect turns up in other disorders. One thing is clear: prices for these drugs will remain breathtakingly high.

So how do we achieve the right balance here? I have previously suggested an approach that may be quite effective in tackling this “allocation of resources” dilemma. It’s time for pharma and large biotech companies to dig deep into their bulging, multi-billion dollar war chests. Working with government funded researchers, they should launch a collaborative large-scale project focused on devising a technical fix for repairing broken genes, rather than attacking individual diseases in a piecemeal fashion. I’m envisioning an effort comparable to what was undertaken for the Human Genome Project. A solution to this vexing problem could provide the clinical basis for treatments for a large number of common illnesses such as cancer and heart disease as well as a wide spectrum of genetically based rare diseases. Until that happens, though, I will try to quell my flip-flopping feelings by celebrating the successes that medical researchers have already achieved in treating both the few and the many.

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Stewart Lyman is Owner and Manager of Lyman BioPharma Consulting LLC in Seattle. He provides strategic advice to clients on their research programs, collaboration management issues, as well as preclinical data reviews. Follow @

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  • FDAmatters

    The supposed imbalance between investment in orphan drugs and other drugs is just that: supposed. Here’s another way to look at it: without the stimulative effect of the Orphan Drug Act and its incentives, the entire biotechnology industry would be years behind where it is today. And the result would be a loss for all patients–those with small as well as large diseases. Knowledge of biology is still more knowledge of biology than it is knowledge of small vs. large diseases.

    There are issues–not because companies disproportionately focus on orphan research, but because the evolving marketplace is supposed to be dominated (eventually) by personalized medicine. In that paradigm, almost all diseases will qualify as rare and most therapies will be orphans.

    I discuss this in an FDA Matters blog column entitled: Orphan Drugs at 30: Will Success Become Too Expensive? It can be found at: http://www.fdamatters.com/?p=2245. To check the blog out, go to http://www.fdamatters.com. Steven