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Collaboration Is Key to Success in Rare Disease Research and Development

Doctors Looking at Medical Vial
Doctors Looking at Medical Vial

One in 12 Canadians, two thirds of them children, are affected by a rare disease. But because each rare disease affects only a small number of individuals, awareness, research, and expertise are limited. 

Though they deal with different disorders, all Canadians with a rare disease share common challenges. Many are misdiagnosed or go years before getting an accurate diagnosis. They also face feelings of isolation and a lack of community resources. There are few specialists in each condition and few effective treatments.

There’s hope, though. Researchers in the pharmaceutical industry and at universities across Canada are working on treatments. One promising area is gene therapy, especially because more than 80 percent of rare diseases have a genetic origin. Gene therapy targets a missing or non-functional gene in an individual’s DNA, adding or replacing it with a functioning gene that will produce a functioning protein. The goal of gene therapy is to restore normal function in affected tissues or cells. 

Comprehensive national rare disease strategy needed 

“A patient’s journey can go on for years and years before being diagnosed. So when you’re diagnosed, that can bring a little bit of comfort. But then there’s little hope because quite often, for many of the rare diseases, there’s no solution,” says Dr. Mark Lundie, Director of Medical Affairs, Rare Diseases at Pfizer Canada. “Where the pharmaceutical industry has a predominant role to play is in investing in rare disease research and gene therapy, and bringing solutions to lessen the severity of the disease, mitigate the progression of the disease, or even improve length of life or quality of life.”

Many new rare disease therapies are for patients with severe, progressive conditions with no other treatments, so access as soon as possible is essential to halt disabilities and save lives.

While more pharmaceutical companies and academic researchers are investigating rare disease treatments, Dr. Lundie says that for some of the challenges facing the rare disease community, the work is being done in isolation. “A national rare disease research strategy, aligning priorities and resources, would be a valuable approach to solving the many challenges facing the patients and families affected by rare diseases,” he says, adding that a country-level organization and coordinated investments in research would help solve many challenges. 

The Canadian Organization for Rare Disorders (CORD) has developed, and is calling for, a more far-reaching strategy that includes improving early detection and prevention; providing timely, equitable, and evidence-informed care; enhancing community support; providing sustainable access to promising therapies; and promoting innovative research. 

Families are struggling to access treatment  

“Families are struggling to get access to therapy,” says Dr. Durhane Wong-Rieger, President and CEO of CORD. “Our current system isn’t set up to deal with this well. Families are optimistic about new therapies but are frustrated by the challenges. Many new rare disease therapies are for patients with severe, progressive conditions with no other treatments, so access as soon as possible is essential to halt disabilities and save lives. Right now, we deal with access to each new therapy one at a time or one patient at a time. Our goal is to set up a responsive system that will maximize availability.” Dr. Wong-Rieger adds that increased investment into research investigating therapies like gene therapy will be an important part of the strategy. 

Dr. Lundie says that gene therapy research is clearing a path to possible treatments. “There are still things we need to learn about gene therapy, for example, for how long these therapies provide benefits,” he says. “But advancements are starting to bring hope to patients and family members who had no hope before. They’re allowing us to open doors to solutions.”   

David Page

David Page

National Director of Health Policy, Canadian Hemophilia Society

What does investment in Canadian research and development (R&D) in rare disease mean to you?

Investment in Canadian R&D is critical for people with inherited bleeding disorders. It leads to more patients participating in ground-breaking clinical trials. It means quicker access to innovative medicines, which can be life-changing. And it helps develop interest in rare diseases and expertise in our Canadian clinicians.

When talking about the future of gene therapies, what’s the outlook from a patient perspective?

Gene therapies for hemophilia A and B are in late-stage clinical trials. A small number of Canadians have already benefitted from this research. A successful gene therapy would mean receiving a single dose of the gene-carrying vector that would work for 5 or 10 years, maybe longer, rather than 100 to 365 intravenous infusions a year that are needed now. And the therapy would be much more effective than current treatments in preventing internal bleeding.

What’s your overall view of pharmaceutical companies in Canada?

Our patient association views the pharmaceutical companies we work with in Canada as partners in our vision to end the pain and suffering caused by inherited bleeding disorders and ultimately to find cures.

Susi Vander Wyk, Cure SMA Canada

Susi Vander Wyk

Executive Director, Cure SMA Canada

What does investment in Canadian R&D in rare disease mean to you?

Investing in rare disease R&D provides hope for a future for patients affected by rare diseases. Many of these diseases are progressive and debilitating by nature. Without the development and ultimate access to these therapies, the future is frightening for what it holds. Treatment changes that fear to hope and planning for tomorrow.

When talking about the future of gene therapies, what’s the outlook from a patient perspective?

Innovative treatments such as gene therapy completely change the course of the disease. We have patients who were fortunate to access gene therapy through clinical trials or a managed access program and who met physical milestones that were absolutely unreachable to patients without access in the past. These families will never have to understand the devastation of helplessly watching their children grow weaker and weaker. They will never have to come to terms with the impact of the fear of illness and death of a member of their family.

What’s your overall view of pharmaceutical companies in Canada?

I feel pharmaceutical companies are in a difficult position in Canada, they receive a great deal of pressure from patients wanting to access treatment within a country that places many barriers through the lengthy approval process. The patient with a rare disease like spinal muscular atrophy loses physical function and sometimes their life while waiting for a pharmaceutical treatment to finally be approved.

Rick Moss

Rick Moss

Director of Strategic Partnerships, Jesse’s Journey

What does investment in Canadian R&D in rare disease mean to you?

Duchenne muscular dystrophy is one of 7,000 rare diseases. So, when you talk about R&D in the rare disease world, I think it’s critical to know there are more than 3 million Canadians who suffer from a rare disease. There really isn’t treatment for the vast majority. Anything we can do to encourage development in that area, to incentivize pharmaceutical companies, universities, or health care centres, is really, really critical.

Most modernized countries have adopted measures or policies to promote rare disease treatments and facilitate patients through rare disease policies, whereas Canada doesn’t have one. I think that we’re the only developed nation without one. It’s really critical now and this is a huge concern.

There’s so much delay and such a difficult process to get access to a rare disease drug in Canada. R&D would be wonderful and there’s some going on for sure, but we need to encourage more. In the case of Duchenne, there are treatments available in the U.K., Australia, and the U.S.. Nothing has been approved in Canada. There’s not one treatment for Duchenne in Canada and that speaks to the need for a rare disease policy.

More R&D in Canada would be terrific because the more research and development we can get, the greater the likelihood that drugs would be accessible to Canadians. If the research is being done in Canada, there’s also the possibility of clinical trials being conducted here. That helps participants in the trials to get access to those drugs that aren’t available any other way. We have so many talented people here, well-established clinics, expert clinicians and researchers, that we should be able to attract world-class research investment and certainly clinical trials. There has been some success, but we have a long way to go. We have the skills and resources, we now need the government to create a more welcoming environment for investment in Canada.

When talking about the future of gene therapies, what’s the outlook from a patient perspective?

Families who suffer from rare diseases are looking for hope. And there’s reason to be hopeful with what’s happening. When you look across the spectrum of things that are being done, gene therapy’s certainly a critical one. And the patients are looking for anything that will provide an improvement in their quality of life and the fact that there are so many different treatments in development is encouraging.

In Canada, families continually hear of drugs and treatments that have been approved in other parts of the world, but they’re not available in Canada and they ask, “Why not?” So a stronger patient voice is really critical and the use of real-world evidence that will demonstrate the challenges and the benefits of the treatments. Those need to be taken into account in determining drug approvals and in pricing.

What’s your overall view of pharmaceutical companies in Canada?

From a patient perspective, the pharmaceutical companies are critical in developing these treatments. The government and pharmaceutical companies should have an obligation to find a way to work together in harmony for the benefit of the patient. Because, in many instances, I think the patient’s held hostage when you have this adversarial approach on the approval of a drug or approval of payment for a drug. I think that’s also key.

This article was made possible with unrestricted support from Pfizer Canada.

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