The trouble with "orphan diseases":

January 22, 2002 6:37 AM

The trouble with "orphan diseases": "most people with orphan diseases are treated only with horribly blunt instruments. The dearth of drug treatments for them is a reflection of basic economics. The profit-driven pharmaceutical industry has little incentive to pour research money into discoveries that will not return big dividends. Small patient populations hold out little potential reward." An orphan disease is a rare disorder that affects fewer than one in 20,000 people; there are apparently more than 6,000 of them.
posted by mcwetboy (17 comments total)

"They often have mysterious names, Alpha-1 and XLH, or names that defy memory -- Wegener's Granulomatosis and Klippel-Trenaunay Syndrome."

Believe me, when you have Klippel-Trenaunay Syndrome, you don't forget the name. On the other hand, I've been vastly more fortunate than a lot of folks with KT, or other orphan diseases - while there aren't really any drug treatments, laser surgery has proven pretty effective (at least for me). And surprisingly, my HMO was even willing to pay for it.
posted by nickmark at 7:35 AM on January 22, 2002

[The profit-driven pharmaceutical industry has little incentive to pour research money into discoveries that will not return big dividends. ]

Another way to look at it - Does it make sense to pour scarce resources into diseases that afflict 1/20,000th of the population or would that money be better spent on things that afflict a higher percentage of the population?
posted by revbrian at 7:53 AM on January 22, 2002

I'm in this category, I have hyperprolactinemia- benign tumors on my pituitary gland make my body produce too much of the prolactin hormone. It affects about 5% of the population, and consequently it's damned hard to get good care for it. My options? Brain surgery (on lesion-tumors, which will grow back) or dopamine agonists. There are no drugs designed to treat just hyperprolactinemia, but people figured out that Parkinson's Disease medications seemed to help.

I have to explain my condition to every doctor I see, including new primary care physicians, and to my insurance company on a regular basis. It's almost enough to make you wish you'd gotten a worse, but more common, disease- at least then there's some confidence that your doctor knows more than you do about your disorder.
posted by headspace at 7:56 AM on January 22, 2002

My understanding is that the profits from drugs like Claritin go into developing treatments for a great many diseases that affect far smaller populations...?

I don't know what to do about orphan diseases. My head tells me that pouring resources into treatments isn't worthwhile, but if it was my son or wife that had one of these diseases, I might be of a different opinion. Hard to talk about cost-effectiveness to your suffering child.

How about this: instead of just vilifying drug companies (which really doesn't do a whole lot), why not ask the largest ones to contribute funds and personnel (tax deductibly, of course!) to a central laboratory devoted to these researching these diseases? They get some good PR and a balance sheet break, the diseases get much needed research, scientists get a chance to do something new, intersting and valauble, and evrybody wins...?

Nuts?
posted by UncleFes at 8:02 AM on January 22, 2002

I thought my ankylosing spondylitis — which apparently afflicts as many as one in 100 people — was obscure, and of course by these standards it is not. Yet it seems that hardly anyone knows what it is unless they themselves have it or know someone who does, or they have the right education to know about it. (Pisses me off.) But I'm not in this category: I benefit from all the research into arthritis drugs and, more importantly, I won't die from it. So reading about orphan diseases was quite the eye opener for me.
posted by mcwetboy at 8:08 AM on January 22, 2002

"Another way to look at it - Does it make sense to pour scarce resources into diseases that afflict 1/20,000th of the population or would that money be better spent on things that afflict a higher percentage of the population?"

In the case of spending huge quantities of money on space exploration, it's been a widely (though certainly not universally) accepted view that the ultimate payoff in terms of scientific knowledge and human accomplishment - even though that payoff may be far off and lots of taxpayers may never see it - is worth it.

It seems to me that a similar argument can be made here. Doesn't working to treat disease enhance scientific knowledge? Arguably even more so when the disease or disorder is rare and kind of weird, as it forces us to re-evaluate our understanding of how the human body works. Plus the fact that it can directly benefit people here and now, plus the potential side benefit of new technologies which may have other applications -- yes, I think it makes sense.
posted by nickmark at 8:09 AM on January 22, 2002

Another way to look at it - Does it make sense to pour scarce resources into diseases that afflict 1/20,000th of the population or would that money be better spent on things that afflict a higher percentage of the population?

The problem is that the diseases in question are not equivalent. Does it make more sense to pour our scarce resources into a disease that only a few dozen people have, but is invariably fatal, or would that money be better spent on, say, a cure for hair loss?
posted by mcwetboy at 8:12 AM on January 22, 2002

My almost-four-year-old daughter Jillian (shameless plug) has a particularly severe "orphan disease" called Rett Syndrome. I obviously personally wish as much money was allocated to finding a treatment or cure for Rett as AIDS or cancer. But intellectually, I understand that resources should be allocated in a way that provides the most benefit to society as a whole. I think the point is that many of these diseases don't even receive their proportionate share of resources, since the market is so small. Our own personal best hope is private fundraising, and the belief that any scientific breakthrough could lead to the discovery we so desperately hope for.
posted by pardonyou? at 8:46 AM on January 22, 2002

How about this: instead of just vilifying drug companies (which really doesn't do a whole lot), why not ask the largest ones to contribute funds and personnel (tax deductibly, of course!) to a central laboratory devoted to these researching these diseases? They get some good PR and a balance sheet break, the diseases get much needed research, scientists get a chance to do something new, intersting and valauble, and evrybody wins...?
Nuts?

Nope. Far from it. That's what I was going to say myself.
As for the "hair loss treatment" comment, remember that, for example, minoxidil was originally a blood pressure medication, it wasn't developed specifically for treating hairloss. And unless you provide some kind of reasonable incentive for drug companies to work on treatments for orphan diseases (dispensing with wishful altruistic thinking for a minute here), the bottom line is that it's just not an effective use of their resources (not "our" resources). I'm from a medical background myself, I'd love for there to be progress made on treating those of us unfortunate enough to have rare diseases, and I'm sure most drug companies would like that too, but I think it's smarter to come up with win/win scenarios like UncleFes' (which might get this research to actually happen) than berate the drug companies for not ignoring their shareholders and spending money on what is, regardless of what spin you put on it, low rate of return research.
posted by biscotti at 8:46 AM on January 22, 2002

I'm suprised no one has mentioned the Orphan Drug Act yet. The US Government already subsidizes production of orphan drugs, with the result that the US pharmaceutical industry has produced and continues to produce a large number of them.

My father's company has an orphan drug for a type of "Bubble Boy Disease."
posted by jaek at 8:57 AM on January 22, 2002

If a test showed you were carring a baby/fetus with Gaucher's Disease, which costs $300,000 a year to treat, would you consider abortion? For a lot of people, that would be a moral dilema, which is what this story is about: The greater good has been served by the profit-driven pharmaceutical industry, yet some are left behind. An alternative model did exist, but in the seventy-some years of the Soviet Union, what was their contribution in this area? China? They are still grinding up rhino horn and tiger penis.
posted by Mack Twain at 8:59 AM on January 22, 2002

[Does it make more sense to pour our scarce resources into a disease that only a few dozen people have, but is invariably fatal, or would that money be better spent on, say, a cure for hair loss?]

I think the market has pretty much spoken on that one, eh? Nobody said our system was perfect!

[In the case of spending huge quantities of money on space exploration, it's been a widely (though certainly not universally) accepted view that the ultimate payoff in terms of scientific knowledge and human accomplishment - even though that payoff may be far off and lots of taxpayers may never see it - is worth it. ]

This analogy would only seem to work if you were discussing the merits of exploring pluto vs mars. I would think a cost/benefit analysis of cancer research vs. "Gaucher's Disease" would lead you to a more useful analogy.
posted by revbrian at 9:38 AM on January 22, 2002

The Orphan Drug Act applys to diseases which affect fewer than 200,000 persons. There are a number of companies out there that do receive grants from the governemtn to research treatments for orphan diseases. There are whole companies that only target orphan diseases. It generally takes 15 years to develop a new drug, so, these companies would have to be thinking about a particular disease in the mid-80s.

Unfortunately, what you will see in the future is larger pharmaceutical firms developing drugs for orphan diseases and then broadening the indications for the drug to treat larger populations. This is a tactic which allows them federal funds and exclusivity on a drug which is probably not the best treatment for a disease but intended come in the "back door" for other, more profitable uses.

As someone who regularly consults within the pharmaceutical industry, I am interested to hear what those outside of it think. Even if you are not really interested in pharmaceuticals, you would be doing yourself and your loved ones a favor by being familiar with the FDA's website and other informational sources regarding common treatments you take for granted. It was certainly an eye-opener for me.
posted by Stretch at 10:07 AM on January 22, 2002

I have Reiter's syndrome, which is genetically similar to what mcwetboy must endure, and also very rare. I too benefit indirectly from arthritis research that targets different forms of arthritis, mostly forms that affect older people. Therefore, I see things being much easier for me as baby boomers get older, and become a market demographic to sell drugs to. What I greatly worry about is what happens to the economics of the pharmaceutical industry after all the baby boomers keel over. Will R&D be vastly curtailed until the next population boom? It won't affect me, but future generations may have some serious issues. Is there any effort to create global drug testing standards that can increase the economy of scale for drug R&D?
posted by machaus at 10:52 AM on January 22, 2002

I agree that it's not as simple as "profit-driven" drug companies ignoring the humanity of a situation - conditions which affect more people are more important to humanity, even if you happen to be one of the unlucky few who suffer from a rare disease. The point about life-saving vs. quality-of-life-saving treatments (i.e., treating a fatal disease vs. hair loss) is a good one though. I would be able to respond better if I could find some statistics on how much money is poured into each respectively.

On another note: the numbers here made me realize just how common disease is - a category for extremely rare is defined by 1 in 20,000, which means 400 cases in NYC alone. You're more likely to get an extremely rare disease than to win the lottery, etc (don't know the exact numbers but if there are 6000 "orphan diseases" we can prob assume 1/2 mill individuals in NYC with one of them - yeah, details more complicated, but you get the point).
posted by mdn at 12:03 PM on January 22, 2002

From a drug company's perspective, the very best things to research and make are drugs that you will take for the rest of your life: cholesterol lowering drugs, beta blockers, anti depressants, contraceptive pills, etc. And the more people, the merrier. This is wise policy for a business. And so public policy should come to the rescue...

On another tack - if a disease is very rare, that must make research into it harder. I imagine it's pretty difficult to muster a population big enough to get meaningful results from; some people will have been misdiagnosed by physicians who don't see X Syndrome very often; there are few people to collaborate with, etc.
posted by i_am_joe's_spleen at 1:10 PM on January 22, 2002

If a test showed you were carring a baby/fetus with Gaucher's Disease, which costs $300,000 a year to treat, would you consider abortion?

At my level of (non-)wealth, the answer is clearly YES.

Why do people think they have some "right" to medical care? You don't. That's been defined legislatively in the US by the lack of socialized medicine. In England, Canada, and elsewhere, you do have a right to medical care, and that right is established by appropriate legislation.

If I were in an accident, and it would cost $300,000 in medical bills for me to get back to what passes for normal, and there wasn't a "deep pocket" to pay that, then I would have to opt-out. [of course, If I say "No," and they treat me anyway, then they have no, um, "right" to ask me for a frickin dime]

All other issues aside - it is completely irresponsible to rack up medical bills you can never pay.

If that sounds cold, then work for socialized medicine. You can't have it both ways: consumerist medical industry AND a "right" to treatment regardless of ability to pay.

No intent to hijack here, just thought that the analogy I quoted deserved some comment.
posted by yesster at 2:14 PM on January 22, 2002