Magazine Article | October 1, 2016

Biotechnology: The Hope For Rare Diseases

Source: Life Science Leader

By John Crowley, Chairman and CEO, Amicus Therapeutics

Nearly two years ago, the White House announced a major new precision medicine initiative, calling it a bold undertaking “to revolutionize how we improve health and treat disease.” Earlier this year, during what was his last State of the Union address, President Barack Obama went one step further, announcing a “cancer moonshot,” with the combined goals of accelerating research, getting more therapies to more patients, and improving the ability to detect and prevent various forms of the disease.

With both the precision medicine and the cancer moonshot initiatives in their relative infancy, I’m reminded that our industry – biotechnology – is itself relatively young. The first biotechs were founded in the ’70s and ’80s, born out of a need to find therapies and cures for diseases that had neither. Many of the great companies in biotech arose from the needs of a single family – a child, a parent, a loved one – saying, “We have a problem,” followed by a scientist or physician responding, “I have an idea.”

Nowadays, as biotechs grow through their early stages and begin to mature, partners arrive: venture capitalists, patient advocacy groups, or even other companies, helping not just to strengthen the foundations for a biotech company but also doing their part to advance research toward the development of a new therapy. Completing the cycle of drug development, from idea to molecule, through clinical studies to an approved medicine, is the rarest of feats that a biotech company can ever accomplish.

Indeed, the world of biotechnology is unique in that before we ever even get to common business issues like competition and pricing, we first have to have a technology that works. Translating a material, whether chemical or biological, into a medicine that is proven safe and effective in human beings has to occur before we can start the “blocking and tackling” common to the business world.

Biotechs in the rare disease space – which is the corner of biotechnology that I have lived and worked in for nearly two decades – face a particularly unique and fundamental challenge: Most of the 7,000+ known rare disorders sometimes affect no more than dozens to a few hundred or thousand people worldwide. The prevailing wisdom was once, and in some corners still is, “Why should I make a medicine that will benefit so few?”

Thankfully, this thinking is becoming more the exception than the rule. Perhaps it is the evolution of the internet and social media, where virtual support communities take root on Facebook, Twitter, and blogs, providing a community for those who once suffered from orphan diseases in isolation and raising public awareness along the way.

Or perhaps our recent advances in rare diseases reflect the growing role of parents like myself and my wife, Aileen. Our journey into the world of medicine began in 1998 with the diagnosis of our two youngest children, Megan and Patrick, with Pompe disease, a rare and then-fatal neuromuscular disorder. With that diagnosis, our family joined this battle against rare diseases. Our goal was to help to find a treatment and, hopefully someday, a cure for Pompe — making drug research very personal, indeed.

After the kids’ diagnosis, we started a small biotech that played a role in the development of a first-generation enzyme replacement therapy for Pompe disease that saved our children’s lives. Today, that journey continues at Amicus Therapeutics, where we focus on making new medicines in the fight against Pompe and other rare diseases.

The goal now is to end Pompe as we know it – and other rare diseases, as well.

That’s why, to me and many of my contemporaries in biotech, the main question is no longer, “When will it be profitable?” Today, the question is, “What can I do to help improve someone’s quality of life – or, perhaps, save it?” We believe that if we make great medicines that extend and enhance people’s lives, that the creation of shareholder wealth will follow. Simply stated, make great medicines.

It helps when the leader of the free world supports initiatives like precision medicine. As it turns out, the treatment of rare diseases aligns perfectly with the goals of precision medicine, in that treating one rare disease may lead to treatments for any number of mutations for that disease. In our line of work, the words “precision medicine” are not just buzzworthy – they are a genuine approach to diagnosing and treating some of the world’s deadliest diseases.

In my more than 18 years in this journey through rare disease drug development and biotechnology, I’ve met many doctors, scientists, and entrepreneurs whom I consider true pioneers and heroes. Their methods vary, but for the most part each person has subscribed to, and followed, these core beliefs and principles:

1 THEY’VE SET A VISION. Our industry is less than 40 years old, which means it doesn’t have the centuries-long foundation that other business sectors have. This is where Big Biotech diverges greatly from Big Pharma. The ones that have succeeded have put aside concerns, like whether the prospective patient population might be an N=1 (a drastic example to be sure) and have set their sights instead on saving as many lives as possible by ensuring the greatest access possible.

2 THEY TOOK RISKS – SMART RISKS. Biotech, by its very nature, is all about risk taking – developing a therapy that would help a few dozen or a few hundred people at most was once seen as anathema. In the early days of biotech, very few companies paid attention to rare and orphan diseases. But without Genzyme, there wouldn’t be a BioMarin. Or a Shire. Or an Amicus. As our industry’s pioneers took the leap, and took smart risks, we showed others the way forward – for instance, the angel investors who have helped biotech grow and evolve.

3 THEY PERSISTED ... Many times within our industry, you’ll hear of companies that are just one step away from insolvency. Some – or most – ride out years, even decades of not being profitable. In the past, I’ve told the story of a retired biotech pioneer who once candidly confided in me that his stock was “stuck at two bucks a share for more than a decade.” I was struck by what he said at first – was that supposed to inspire me, or prepare me? – but then he added words I will never forget: “If you believe in the science,” he said, “then push it as far as you can.” That pioneer was Dr. Sol Barer, Celgene’s founder.

4 … AND THEY STAYED HONEST. One day back in 2009, my colleagues and I had to present data from a failed early-stage clinical study to our investors. The market reaction was quite negative. But we were entirely transparent in what we shared. Later that day, one of our largest shareholders called, not to berate us for a failed study but to congratulate us for pushing the science and, most importantly, for being honest in the results. The words from that investor stayed with me and guide our business today: Always be honest. Don’t whitewash the truth. Share the data, learn from your mistakes, and make improvements from there. Above everything, it’s OK to say something doesn’t work. In fact, almost everything we try in clinical studies, especially in early ones, does not work. That’s OK. Learn, and move on.

5 THEY TOOK ON THE PATIENT’S PERSPECTIVE. I once had the privilege of hearing a man speak about the importance of medical research and developing therapies for conditions rare and common. He was a quadriplegic, having suffered a severe spinal injury that left him paralyzed. Regarding a cure for his condition, he was candid and blunt: “Maybe it won’t come in time for me,” he said. “But it gives me hope that it will eventually be in time for somebody.” That man was Christopher Reeve, and his words gave me a new perspective on our collective roles in biotech. For me, the reason I got into this line of work was to help find a cure for my children. But at that moment, I thought of the cases that were yet to come. Yes, we develop technologies and drugs for those currently affected. But we are also doing it for those whom disease, rare or not, has not yet touched. We provide hope for those who don’t even know that they need hope.

Biotech helped save my children’s lives. It has given them time and quality of life. And it has given to us as biotech entrepreneurs time to come up with even better and more advanced technologies to treat diseases like Pompe. The treatments are important steps now in aiding us to move from early “treatments” to “cures.”

While this journey began as the most personal of missions for two very special children, it continues with the hopes of millions who suffer from rare and orphan diseases. At its root, biotechnology is just a great big word that for so many people simply means “hope.”

Even where the N=1.