How much is that cure in the window? Pharma testing the waters of the cure

Melissa Hogan


This article discusses the movement of mainstream pharma into the treatment of rare diseases and questions whether that might eventually lead to pharma investment in disease cures, rather than just treatments.

No one’s ever asked me to run in a “Race for the Treatment”. It certainly doesn’t sound as motivating as a Race for the Cure…. A cure is where it’s at.

Or so I’ve learned from my son Case. Case is five years old and suffers from the rare disease Hunter Syndrome or Mucopolysaccharidosis II. It is a genetic disease that, in its severe form, causes loss of physical and cognitive skills over time with an average lifespan of 12–15 years. For full disclosure, I will tell you that he’s in a clinical trial and is doing remarkably well. He is one of the lucky ones.

But after facing life with a child who sees ten doctors and two therapists, has a weekly four-hour infusion, and travels to another state monthly for a clinical trial, I will tell you this much is true:

We’ll take a treatment. But we want a cure.

If you spent every day battling a life-altering disease, would you want a cure that makes it disappear or would you rather have a regular, possibly invasive and yet incomplete treatment, and continue this possibly for your lifetime, along with the physician visits, tests, and other procedures that go along with having a chronic, life-limiting disease?

When we read about treating rare diseases, we generally see “treatments and cures” since only approximately 5% of the 7,000 rare diseases even have a treatment, much less a cure. So yes, we’ll kindly take a treatment.


“We’ll take a treatment. But we want a cure.”


In fact, pharmaceutical companies are generally not in the cure business anyway. Let’s be frank, businesses are in business to make a profit and for pharmaceutical companies, the best way traditionally to do that is to make drugs that can be taken by more people, not the very few numbers affected by some rare diseases. More patients in turn creates higher revenue and if they’re lucky, blockbuster drugs.


Figure 1: The author’s son Case – he goes through so many medical procedures that doctors and nurses are a central part of his life.

Move over blockbuster

However, over the last several years, many of the patents on blockbuster drugs like Lipitor have expired or are coming close to expiration. This, combined with the attractive incentives of the Orphan Drug Act (e.g., market exclusivity, fee waivers, and tax incentives) and the relative financial success of rare disease-focused companies like Genzyme, have attracted big pharma players like Pfizer and GlaxoSmithKline.

Unlike blockbuster drugs, however, rare disease drugs are an entirely different market. It is, by its nature, a much smaller market. But it is often a different market demographically, socially, and especially medically.

Rare diseases are approximately 80% genetic in origin and approximately 50% of those affected with a rare disease are children. A market of children facing a terminal genetic condition is vastly different than middle-aged men and women deciding whether or not to begin hypertension medication.


“Unlike blockbuster drugs, however, rare disease drugs are an entirely different market. It is, by its nature, a much smaller market.”


In many cases in the genetic rare disease market, it is a race against time. Generally these conditions are progressive and degenerative, meaning they get worse over time and the children (usually) lose their skills and have a significantly shortened lifespan.

A gene therapy doesn’t always mean gene therapy

Let’s take cystic fibrosis, for example. In 2011, the FDA approved Kalydeco which is a targeted therapy for a specific mutation that causes cystic fibrosis, G551D. Although it is for a specific genotype, it does not work to “fix” the gene or necessarily to “cure” the condition, as it were. It is a daily drug regimen, again, the traditional cash flow drug model.

Hot on the heels of Kalydeco, however, is research into the more traditional gene therapy cure version. An academic consortium in the UK is right in the middle of a Phase II double blind clinical trial for cystic fibrosis patients ( It is not surprising that it is an academic research consortium since cures, at least for genetic diseases, have traditionally been the arena of academia, which all too often suffers from lack of funds and access to translational research capabilities necessary to move a cure to market.

So will pharma ever venture deeper into the cure business? Or are there enough rare diseases for which there are no treatments to keep pharma busy enjoying the Orphan Drug Act benefits for a long time to come? Will pharma continue to drive the train on the treatment track or will some force cause a collective jump to the cure track?

The track change may already be upon us.

Once upon a cure

Cures can look different in different diseases. In genetic rare diseases, a true cure would be to fix the inborn genetic error, in most cases, by gene therapy.

Gene therapy, in some form or another, has been around for some time. According to data gathered by the Journal of Gene Medicine, since 1989, the number of approved gene therapy clinical trials worldwide has increased from 1 to a high of 118 in 2008 and to 39 in 2012 (


Figure 2: Gene Therapy – using genes to generate protein therapies in the body. National Institutes of Health.

One of the first gene therapy “cures” for a genetic condition, Glybera, was just approved in 2012 by the European Medicine Agency. Glybera, made by uniQure, is used to treat lipoprotein lipase deficiency (LPLD), a very rare inherited condition that is associated with increased levels of fat in the blood. It is considered a “cure” by many because it improves the patient’s long-term prognosis by changing the genetics and also because it is a one-time treatment versus a maintenance medication.


“Rare diseases are approximately 80% genetic in origin and approximately 50% of those affected with a rare disease are children.”


However, even something that appears this golden has its drawbacks, or so clearly thought the EMA, which went back and forth from rejection to reapplication to reversal and finally to approval over 2 1/2 years after the first application was submitted in January 2010 by Amsterdam Molecular Therapeutics, the ultimate demise of which led to the organization and resubmission by uniQure.

Now that it’s here, it’s here at a price. For Glybera, it’s a whopping 1.2 million euros or about $1.6 million for the one-time treatment. It’s a staggering sum to many, but when you compare that to the 10+ rare disease drugs that are priced at over $200,000 per year, it seems a paltry sum.

So given that, although a high relative price could seemingly be charged for a “cure” for a rare disease, is that enough for pharma to truly make the leap into the cure business, where patients are only found because they are born?

I’d like to believe that it will happen. Just imagine if pharma decided only to make medications to treat diseases like polio or measles rather than vaccines to eliminate them. Like our generation with polio, it would be nice for a young baby born with Hunter Syndrome or Fabry disease or MLD … to get a shot and then never have to think about it again.


About the author:

Melissa Hogan is a lawyer and strategic consultant by profession, but since her youngest son Case’s diagnosis with MPS II in 2009, she has also applied her experience to become an advocate, author, and speaker on behalf of rare disease families. She writes about advocacy, medical research, pharma, clinical trials, therapies, social media and special education on, a blog that is now read in over 100 countries. She also uses other social media strategies such as Twitter, Facebook, Pinterest, YouTube, and LinkedIn and serves on the Advisory Board for the Mayo Clinic Center for Social Media.

She is also the author of the e-book Calmer: Medical Events with Cognitively Impaired Children (2012) which seeks to share strategies for preventing medical trauma in children with chronic medical conditions.

For more information, visit Melissa can be reached via Twitter @savingcase or by e-mail at

Do you think we’ll see cures for rare diseases?