How and why did you get involved in life sciences?
I’ve always been fascinated by human health and felt compelled to help others. When I was finishing my science degree and deciding what to do next, I learned about the pharmaceutical industry and thought it would be a great way to combine my passion for health and my interest in business. From those earliest days, it was evident to me that the biopharmaceutical industry can make a huge difference in the everyday lives of patients.
I was fortunate to enter the rare disease space about 17 years ago. In those years I’ve helped usher nine novel therapies through the various federal and provincial review processes, all of which were the first glimmer of hope for those rare disease patient communities. That’s something I’m really proud of.
I joined Ultragenyx five years ago and it’s been exciting building the Canadian subsidiary of a deeply mission-driven company. Our small but dedicated team has worked very hard to expand the company’s footprint while supporting the broader rare disease ecosystem.
What are some of the key lessons you’ve learned along the way?
First and foremost, I’ve learned the importance of collaboration.
I’m proud of the partnerships that Ultragenyx has developed with a number of rare disease patient communities, including the Canadian XLH Network, MitoCanada, and the Canadian Heart Patient Alliance. We also support the missions of broader rare disease organizations like the Canadian Organization for Rare Disorders (CORD) and Le Regroupement Québécois des Maladies Orphelines (RQMO). Our support of the 2023 Clinical and Research Fellowship in Advanced Genomics in Pediatric Rare Disease at SickKids is another great example of our commitment to collaboration.
I’ve also learned that there’s a big difference between the Canadian market and other larger markets globally. All too often I’ve seen that our health care system is slow to provide patients access to treatments, even after they’ve been approved by Health Canada. This is an opportunity for improvement, and there are many case studies to look at when building our own policies, processes, and regulations. There’s no perfect system, but we should consider best practices from other regions as we develop a Canadian solution for getting these medicines to the people who desperately need them.
What makes your company unique?
Ultragenyx’s mission is to transform the lives of people living with rare diseases. That’s our sole focus.
Our current areas of focus include rare metabolic disorders like long-chain fatty acid oxidation disorders, or LC-FAODs, and ultra-rare atherosclerotic disorders like homozygous familial hypercholesterolemia, or HoFH. Our involvement in HoFH is a perfect example of what makes us unique. HoFH is a devastating disorder that affects a very small number of people in Canada – but despite the small number of patients, we entered this space because we believe that our involvement can make a difference. We’re also developing potential therapies for a number of rare diseases, including glycogen storage disease type 1A, osteogenesis imperfecta, and Angelman syndrome.
It’s not possible to talk about what makes us unique without talking about our founder and CEO, Dr. Emil Kakkis. Emil is a clinician, scientist, and researcher who has developed multiple novel breakthrough therapies for rare disease over the last 30 years. He constantly emphasizes doing what’s right for patients and is passionate about ensuring sustainable access to our therapies.
What are the main challenges associated with developing novel therapeutics for small patient communities? How can we overcome them?
One of the biggest challenges rare disease companies face is in designing and implementing clinical trials that will meet the requirements of regulatory agencies like Health Canada and the U.S. Food and Drug Administration (FDA). Fortunately, at Ultragenyx we use a dynamic development model with unique trial and endpoint design to try and address these challenges. For example, we partnered with the X-linked hypophosphatemia, or XLH, community to develop a first-ever treatment for adults living with this progressive, painful disease. By listening to patients, we learned that pain, stiffness, and mobility were their greatest challenges, so we designed the endpoints of our clinical studies around those symptoms.
Another major challenge lies in the low, or sometimes incredibly low, amount of awareness of a given disease. Many of these diseases are complex and their rarity means that many patients and physicians don’t even consider them as a possible diagnosis for years. Without a diagnosis, many patients won’t be considered for clinical trials or treatment.
“Many of these diseases are complex and their rarity means that many patients and physicians don’t even consider them as a possible diagnosis for years.”
Patients motivate us to keep pushing. We know that, once diagnosed, patients count on us to do everything possible to help with the management of their disease and improve their quality of life on a daily basis. Because of this, we work hard to raise awareness, significantly improve time to diagnosis, inform physicians, and help secure access to therapy.
How can we better care for all Canadians impacted by rare disease?
The rare disease community is unlike any other – and that doesn’t end with patients. Because behind every patient is a family, a network of friends, and a team of health care professionals. Everyone involved is working hard to provide the best care and support possible within the current system – that’s really important to note. Unfortunately, the current system is flawed.
In my opinion, the first thing we need to do as a country is to recognize that rare diseases are in fact different from more common diseases. A significantly different approach centered around the unique needs of rare disease patients must be taken. For example, rare disease treatments are currently evaluated by various health technology assessment agencies using the same criteria that’s used for therapies for larger populations, despite unique challenges such as complex, small clinical trials. This one-size-fits-all approach often leads to patients in need being denied access to therapy.
And then, of equal importance, we also need a paradigm shift – within the health care system and at all levels of government – away from restricting access and containing costs, and toward patients being able to access the therapies they need as soon as possible. We need to think of timely access to effective treatments as the goal and then develop solutions to achieve that goal. These solutions will require continued advocacy from patients and physicians and open communication by all stakeholders, but I remain confident that tangible, positive change is within reach.
To learn more about Ultragenyx Canada, click here.
This story was created by Patient Voice, on behalf of Ultragenyx Canada.