Mr. Chair and members of the committee, thank you very much for inviting me to speak to you about rare diseases and the experience of looking after several patients with rare diseases.
By way of introduction, I'm a pediatric nephrologist originally trained in the U.K. and then at the Hospital for Sick Children in Toronto. I've been working at the Alberta Children's Hospital in Calgary for over 24 years. I help treat a wide range of more or less rare diseases, including atypical hemolytic-uremic syndrome and C3 glomerulopathy.
The disease I'm most familiar with, given the issues of access to treatment, is a condition called cystinosis. Cystinosis is rare. It affects about one in 100,000 to 200,000 individuals, and it's due to a genetic defect inherited from both parents, who are unaffected, who each have one mutation in the cystinosis gene. Individuals with cystinosis present at about a year of age or so with poor weight gain and poor growth, and they primarily have kidney disease, which is why nephrologists are initially involved. The kidney disease causes excess excretion of electrolytes such as sodium, potassium, phosphate and bicarbonate, and there is progression to decreased kidney function.
Part of the treatment of cystinosis is oral replacement of the electrolyte losses, best taken several times a day. Although these medications are literally life-saving, they are often deemed nutritional supplements, and costs are not by any means covered by private or provincial drug plans. However, this inborn error in metabolism with cystinosis causes not just kidney disease: it affects all cells of the body, and so has many other manifestations apart from kidney failure.
The prime treatment of cystinosis is with a medication called cysteamine, which markedly reduces the cellular impact of the disease. Cysteamine treatment is lifelong and clearly beneficial. It delays kidney failure into adulthood, and largely prevents the effects of cystinosis on other organ systems.
Although cysteamine was approved by the U.S FDA in 1994 to treat cystinosis, it has never received notice of compliance in Canada. Thus, access to cysteamine for Canadians with cystinosis was, for more than 20 years, via the Health Canada special access program.
Cysteamine is given four times a day, and it is relatively expensive, at about $10,000 a year or so, depending on the patient's size, but with no notice of compliance, funding of cysteamine was sometimes an issue, since it wasn't covered by private plans and there were various special access program mechanisms in provinces to allow funding of this medication. The paperwork was completed every six months for each patient taking the medication, and this wasn't necessarily a significant barrier to access once you'd established the access through the special access program.
Delayed-release cysteamine became available in the U.S. in 2013, and it received a Health Canada notice of compliance in June 2017. It was a twice-a-day treatment, and this almost certainly improves adherence to the treatment in adolescents and adults. However, there were no long-term studies of effectiveness, and many families wanted to stay with what they knew worked for them. It became obvious that this was going to be much more expensive. I've characterized it as sort of like buying a house every year. It wasn't added to the Alberta drug benefit list until September 1 of this year, and it specifies $35.05 for a 75-milligram capsule. You actually have to take quite a lot of these capsules, and the dose for an adult could be more than $1,000 a day, or more than $400,000 per year if you use this list price.
Directly after the notice of compliance was given, the special access program certainly gave the impression that immediate-release cysteamine was not available at all, and even if the medication was commercially available, funding was clearly going to be an issue because no family was going to be able to afford this unless they had private insurance. There was difficulty of access, because this was not commercially available, and just because there were no funding mechanisms, it didn't seem that the special access program was going to continue to grant access to the immediate-release cysteamine.
Eventually, when it became obvious that for all sorts of reasons the medication wasn't going to be available, the special access program did grant requests based on medical need, but the medical need criteria that were sufficient were not available to prescribers, and if granted, the duration of access through the special access program was sometimes three or four months, rather than the previous six months at a time.
This was extremely difficult for families. They were uncertain of the medication supply they knew had to be given consistently throughout each day and without interruption. Certainly for health care providers, it created an awful lot of extra work and difficulty too.
One of the things that didn't happen was that there was no proactive communication with prescribers from the special access program regarding the changes that were going to occur with the immediate-release cysteamine access.
To its credit, the pharmaceutical company did provide a compassionate supply of delayed-release cysteamine for patients who had no access to funding to ensure there was no interruption of their treatment.
In summary, regarding this, the ability to get non-approved medications through the special access program is necessary, but the process, at least initially, can be somewhat onerous. For immediate-release cysteamine, having access through the special access program for more than 20 years seems somewhat extraordinary.
The process of change to an approved formulation of the new medication was uncoordinated and not seemingly in the best interest of patients. It seemed to be described to us as being in the best interest of the Health Canada system and of the pharmaceutical companies.
The price-setting mechanism for the new medications is not well understood by me, and it was over a year before Alberta listed delayed-release cysteamine on its drug benefit list. Funding of the medication is being negotiated by the pharmaceutical company with each province individually, and I understand that so far Alberta, Saskatchewan, Ontario and Quebec have come to an agreement on funding. This funding through the government channels appears to be less than the list price, but of course it remains confidential.
Looking to the future, the treatment of cystinosis with cysteamine, although relatively effective, certainly isn't easy, and now it is extraordinarily expensive. There is real hope in the cystinosis community that stem cell treatment will be able to correct the genetic defect and offer a cure. This is soon to start clinical trials in the U.S., but if it were to become available after these trials, I wonder if Canadians would have access to this treatment. The issue might be something along the lines of the fact that you cannot spend a large amount of money on a medication that comes from one pot and whether or not this savings could be applied to an out-of-country genetic cure.
Mr. Chair, that concludes my opening statement.
Thank you. Thanks to all my fellow speakers who have come today.
My name is Doug Coyle. I'm a professor at the school of epidemiology and public health at the University of Ottawa. I'm a health economist and have worked in this research area for the past 28 years. I have no conflicts of interest to report regarding this matter.
Previously, I've been a member of the Ontario Ministry of Health and Long-Term Care's committee to evaluate drugs and the drugs for rare diseases working group, as well as the Canadian expert drug advisory committee of the Canadian Agency for Drugs and Technology in Health, or CADTH. In all of these committees, I've helped make recommendations on the funding of new pharmaceuticals.
Thank you for giving me the opportunity to present my views today. My research and my teaching is driven by my passionate belief in the necessity of a publicly funded health care system. This is based on both the fundamental belief that equality in access to health care should be a right, and that the nature of health care as a commodity is such that provision through a market-based system is inefficient. The latter should really never be underestimated.
Despite my strong beliefs in the need for a publicly funded health care system, I feel my presentation today may be contrary to other speakers.
I've been asked today to present my views regarding barriers to access to treatment and drugs for Canadians affected by rare diseases and disorders.
Our health care system is under increasing pressures. New, more costly interventions have become available, and the clamour for their adoption is great. It is important that we have a process to assist decisions related to which technology should be funded, based on the values and wishes of Canadians. Given this, I believe that fair, equitable and transparent processes for making the complex and difficult decisions with respect to reimbursement for health care interventions are a necessity to ensure the sustainability of our health care system.
Although the processes currently in place are a start, they do not sufficiently address the challenges facing our health care system today. I suggest the fundamental principle by which we need to develop such processes is a need for fairness, as difficult decisions on what should and should not be covered need to be made through a process that recognizes the need to treat people equally—that is, a health benefit gain for any Canadian should be considered of equal value. Thus, the aim of our health care system would be to increase the overall health of the Canadian population.
However, given our limited budget for health care, not all new technologies will increase the overall health of the population. Despite claims, most if not all new technologies do not save money in the long term. Thus, we need to assess whether prices given for new technologies are justified, given their potential benefits.
We can assess how efficient the Canadian system currently is at producing improvements in population health. Current estimates suggest that we spend about $30,000 to $50,000 for every additional year of healthy life gained. That could be the benchmark to assess whether a new technology is worthwhile. Given our constrained budget for health, in deciding to fund technologies that cannot produce benefits at that price, the necessity is that we are therefore reducing the potential health of the Canadian population. By this, we are implicitly deciding that the health benefits to one group of Canadians are of greater value than similar benefits accrued by others.
Numerous surveys have been conducted both in Canada and worldwide that have explored whether the general public is willing to accept reduced levels of health across the whole population for improvements for specific populations—that is, are these populations for which they believe the health benefits are gained of greater value than other populations? The results of the surveys have repeatedly shown that the public does not value rarity as a sufficient reason to give greater weight to the health benefits accrued. Thus, to reflect societal values, technologies relating to rare diseases should be evaluated using the same criteria as technologies affecting more common conditions.
I'd like to present again the case of Soliris to this committee. Soliris is a drug for the treatment of a rare disease called paroxysmal nocturnal hemoglobinuria, or thankfully, PNH. It is a rare blood disorder. Soliris is effective. It reduces the instance of thromboembolism, the main cause of mortality in this disease, and it reduces the need for blood transfusions, a major management cost of the disease.
However, Soliris literally costs $500,000 per patient per year. An independent analysis is that funding Soliris could only increase the overall health of the Canadian population if a price reduction of 98.5% were achieved. Although Alexion pharmaceuticals has been required to reduce the price of Soliris, it is unlikely to have been to this extent.
We are often told that funding for rare disease will have little impact on health care budgets and there is a reason for being more lax in funding decisions. However, the funding of Soliris at the original listed price would cost more than $100 million per year if all those eligible received treatment. These resources could provide many other health care services to Canadians that would produce much greater health benefits.
Thus the decision to fund Soliris in certain provinces, even with the reduced price, should not be viewed as fair. Given the constrained resources facing our health care system, funding Soliris has led to many thousands of Canadians not receiving the health care that would have given them benefit. The overall health of the Canadian population has therefore declined as a result of such funding decisions.
There are many other examples of drugs for rare disease that are funded and for which the decision to fund will have resulted in a reduction in population health. More recently you may have heard of the coverage of the issues relating to the funding of the drugs Orkambi and Kalydeco for cystic fibrosis. There has been much media coverage relating to the inconsistency of coverage of these products across Canada. Analysis of the long-term benefits of these products by CADTH suggests that for their funding to result in an increase in the health of the Canadian population, the price of the product would have to be reduced by at least 90%. Not funding Kalydeco or Orkambi has been a responsible decision by the provincial ministries, in that funding these products would deny other Canadians the health care they require and that health care would provide greater benefits to the Canadian population as a whole.
An argument we typically hear is that Canada should be rewarding manufacturers of innovative medications. We should, however, support innovation by ensuring that funding is given to those technologies that represent value for money—that is, that they provide greater increases in the health of the Canadian population. It is hard to argue that a product that if funded will lead to reductions in the overall health of the Canadian population is truly innovating.
With the discussions in Canadian media coverage of issues regarding funding of drugs for rare disease, little focus is placed on the exceptionally high acquisition cost of these drugs and the role of manufacturers in creating these difficult situations, as evidenced by Dr. Midgley. Treatment with Orkambi costs $300,000 per patient per year. An interesting article recently explored the difference in the media coverage within the U.S. and Canada with respect to Orkambi. In Canada, the focus is typically on individual patients' fights for coverage, while in the U.S., the focus is on financial aspects relating to the product, the high level of sales and the financial performance of the manufacturer of Vertex pharmaceuticals.
Niche manufacturers of drugs for rare diseases are clearly not hurting. This is increasingly becoming the focus of the larger pharmaceutical companies, too. This has led to increasing questions about the pricing of such products and recent suggestions that having the Patented Medicine Prices Review Board bring considerations of impact on overall health of the Canadian population into price setting should be encouraged.
I strongly believe that before committing to fund products with such high annual costs, greater work is required to assess the reasonableness of the prices charged. A further point I would like to raise is the need for a more comprehensive approach to the funding of all health care interventions, not just those for which there is increased funding pressure due to the activities of a commercial sponsor.
When holding discussions within the rare disease space, much of the focus is on pharmaceuticals. This is frequently the primary focus of patient advocacy groups. However, the current focus within the health care system on pharmaceuticals leads to funding decisions that typically favour such technologies over alternative health care interventions, which may provide more benefit but where profit is not a driving factor for those advocating for the coverage. We need to consider all the technologies that are out there. Many existing technologies are underfunded, yet have evidence to support their effectiveness and cost-effectiveness. Many of these do not have commercial sponsors.
Given the changing demographics of our country and the increased long-term need for home care and long-term care, the continued focus on pharmaceutical coverage is in many ways missing the major problem facing our health and social care system today. Care through hospices, home care services and nursing homes suffers from a lack of commercial interest in promoting them, and they are often overlooked by those groups advocating for health care. There is a lack of funding for research to highlight their benefits and there is limited lobbying because of the lack of a commercial sponsor.
To summarize, I would like to reiterate the points that follow.
For a publicly funded health care system to be sustainable, we must have decision-makers who are willing to make the difficult decisions not to fund specific new technologies. By failing to make such decisions in a consistent and fair manner, decision-makers are leading to the reduction in the health of the overall population of Canadians, and, I am afraid—to be direct—just not doing their job.
Fairness should be the key principle in choosing which technologies to fund, and funding technologies that deny the availability of other technologies that provide more benefit is unfair and not consistent with societal values.
Today's focus on rare disease tends to lead to a refined focus on the coverage of pharmaceuticals. However, to reach our objectives of increasing the health of the Canadian population, it's essential that sensible and rational decisions be made on a consistent basis with respect to the funding of all health care interventions, not just those with commercial interests promoting them.
Thank you very much for your time.
Distinguished members of this committee, I am the executive director of The Isaac Foundation, an organization that is dedicated to providing advocacy and support to patients dealing with a wide range of ultra-rare disorders and needing access to rare disease treatments, including patients battling cystinosis.
With my work throughout the United States, I'm also a member of the NYU Working Group on Compassionate Use and Pre-Approval Access, where we're making a concerted effort to improve and address the issues around access to experimental medications.
In addition, I'm on the board of directors of Clinical Research Pathways, where we work to help desperately ill patients get access to experimental medications through expanded access.
I also serve as an associate fellow with GE2P2 Global, an organization that seeks to advance ethical and scientific rigour in research and evidence generation. I am a member of GE2P2's independent bioethics advisory committee, which provides advisory support to biopharma organizations on expanded access programs, clinical trials and other areas.
I've also been fortunate to testify as an expert witness for the United States Senate when they were looking into “right-to-try” legislation for terminally ill patients seeking access to potentially life-saving treatments.
My organization is very dear to me because it's named after my son, my hero, the bravest person I know, Isaac McFadyen. Isaac suffers from an ultra-rare and devastating condition called MPS VI. When Isaac was diagnosed, we were told that he was going to live a life of pain and suffering. Every bone, muscle, organ and tissue in his body, with the exception of his brain, would be ravaged by this disease until he eventually succumbed to the condition, probably in his early to late teens. For 12 years he has battled—we've battled—to stave off the inevitable, and we've been lucky. In 2006 we were able to access a new life-prolonging treatment, one that was approved by the FDA but not by Health Canada—and it had a very difficult pathway through CADTH—to fight his disease. Isaac is now 14 years old, and the 14 that we see today is very different from the 14 we were told to prepare for.
I share this with you. I share both my professional experiences and my personal journey with Isaac to show how much I understand the world that our families are living in and how much I understand the unbearable burden that a terminal diagnosis can bring to a family.
I said it earlier, and I say it often: we are incredibly lucky. It has been a long and difficult journey together, but we're lucky that this journey continues. Accessing that life-prolonging treatment soon after his diagnosis provided us with a lifeboat of sorts, an opportunity to dramatically slow down the disease until a cure could be found. It was an opportunity for him not to live a life of pain and suffering.
For us, that cure is close, and our family leaves for Italy in two days so that Isaac can receive a one-time, life-changing, and hopefully curative gene therapy infusion as part of a clinical trial. He is set to become only the fifth patient in the world to receive this treatment, and the only patient from North America. Our health care system kept him alive to get to that cure.
In this world of rare diseases that I wade through each and every day, Isaac's story itself is rare because, unfortunately, this country has not been good at providing similar lifeboats for the vast majority of patients in need. It's not a case of these lifeboats being unavailable. Indeed, more and more life-saving treatments for these devastating conditions are being approved and marketed. The problems in terms of access relate to the process involved in actually making these lifeboats available to patients. Due to the low patient population for any given rare disease, pharmaceutical companies do need to charge a high price to recuperate the exponentially high costs of research and the pathway to approval. This high cost, sometimes upwards of $500,000 per patient per year, is seen as a burden on the health care system. To help ensure that there is value for dollar, these innovative yet expensive treatments undergo additional reviews from regulators, making the pathway from laboratory to patient extremely time-consuming and arduous, with patients paying the ultimate price for these bureaucratic delays.
For example, drugs for rare diseases often get approved under Health Canada's priority review pathway due to their potential to be life-saving or life-altering. Unfortunately, this rapid approval does not mean that patients will gain access to the rapidly approved drug. After Health Canada approval, the drug then heads into CADTH for a second review evaluation. This review can take anywhere from six to 12 months. After the CADTH review, the drug gets sent to pCPA for pricing negotiations. The pCPA was set up to help lower the cost of drugs by negotiating one price for all jurisdictions in the country.
While laudable, this step leads to more delays in getting drugs for patients and it's not uncommon for pricing negotiations between pCPA and the pharmaceutical company to take 12 months or longer.
The process I've described is very strict, and jurisdictions rarely allow access to these drugs under review while the bureaucratic processes are playing out, again to the detriment of patients fighting for their lives.
That leaves patients and family members very few choices. They either sit and wait for help to arrive as they race the clock against their devastating disease, or they take action and bring their cries of help to the public through advocacy campaigns, newspaper articles, petitions and targeting of politicians.
To be clear, no patient or family wants to have to put their children on the front page of the newspaper to ensure the help they need is made available, nor should they have to. Patients and families battling rare diseases already have so much to deal with in their lives, and shifting the burden of accessing potentially life-saving drugs from regulators to patients is cruel and unjust.
I have been very lucky to work well with both government and pharmaceutical officials, working together to try to find solutions to these challenges our patients face. I'm often viewed as objective and fair, always advocating for the needs of our patients, yet often advising jurisdictions as to the most equitable and ethical path forward for all involved.
In the past, these collaborations and these collaborative relationships have helped pave the way for our patients most in need, and I'm proud to say that we have never, ever been unsuccessful gaining access to a rare disease treatment for any of our patients throughout the country. However, the increasing reliance on the strict yet lengthy process I've previously discussed, without allowing room to veer from these processes for some of the most extraordinary circumstances that often arise in our rare disease community, leaves my organization feeling that expeditious access for our patients is now unattainable.
For example, I am currently navigating access for a small group of patients who are battling a horrific and rapidly progressive ultra-rare condition. There are only nine patients in Canada, living in communities bordering ridings that eight of today's committee members represent. The disease results in neurological impairment that leads to blindness, seizures, the progressive inability to move, and then rapid death. The FDA approved a breakthrough treatment for this conditions 18 months ago, and it's expected to be approved by Health Canada sometime this year under their priority review. We have been able to provide it to patients through the special access program—or we are able to provide it as long as there's a reimbursement plan in place from either the provinces or the pharmaceutical company, and therein lies the challenge.
After a full year of working with government officials, the pCPA and company representatives, patients still don't have access to this drug. It has been exhausting work, and we're at the point where the company has generously agreed to open access to patients immediately, with very few requirements on governments to make that happen. Still, for fear of setting precedent and veering outside the normal bureaucratic processes that all rare disease drugs must undergo, that offer from the pharmaceutical company, one that I feel is incredibly generous and will open access, has not been accepted by jurisdictions, and it may well be that patients will have to wait years before they can access this drug.
However, what does that truly mean? It means that the entire patient population battling this disease will die before access to this life-saving drug is granted, a horrific catastrophe that all of us can easily avoid. I have vowed to each and every patient and family fighting this battle that I will not let that happen. I continue to believe that all stakeholders can collaboratively work together to stop these deaths from taking place, if only they are granted leeway to approve the innovative, ethical and very equitable pathway that our organization has worked so hard to lay out.
To prevent that from happening for other patients, I believe we should provide a triple-track review process for drugs being granted priority review, with Health Canada and the CADTH reviews taking place simultaneously, and pricing negotiations becoming active alongside both review processes, with the aim to complete negotiations by the time the drug is approved. This would dramatically reduce the time it takes to bring these life-saving drugs to patients in need, and we wouldn't lose entire generations of patients as they wait for help to arrive.
In addition, we should set aside a very small percentage of the health care transfer to use as a common pool of funding to be used by jurisdictions across the country to provide immediate access to life-saving drugs once approved, but while the final pricing negotiations may still be taking place. This would ensure that all patients who require an approved drug would receive it, regardless of how fast or slow the bureaucratic process plays out around them.
As well, I believe it's essential to have a panel of independent bioethicists, much like the committee that I'm involved with in the United States that consults and advises large pharmaceutical companies when they encounter difficult access cases, to help provide guidance and support to jurisdictions that may also encounter difficult and exceptional cases, much like the one I just described. This independent panel, consisting of bioethicists, pharmacists and patient advocates, could help find innovative solutions to these exceptional cases for which access needs to be granted immediately in order to save lives but for which the process still needs to be carried out to ensure accountability and the value for money that bureaucrats are seeking on behalf of Canadians.
Distinguished members of this committee, our system is broken for the vulnerable Canadians who, like my son, have done nothing wrong but have simply fallen on the wrong side of the genetic lottery. It's broken for patients fighting for their lives, hoping and waiting for that lifeboat to arrive. It can and it must be fixed.
Thank you very much.
My name is Craig Campbell. I'm a pediatric neurologist at the Children's Hospital in London, Ontario, at Western University. I'm the head of the division of neurology there and deputy chair for research for the department of pediatrics. I'm also the deputy chair of the TREAT-NMD global registry oversight committee, which is a collaborative of over a hundred rare disease and ultra-rare disease patient registries for neuromuscular disorders.
I appreciate the opportunity to address the committee today and reflect my experience in this field.
I will first disclose that I work with many pharmaceutical companies to plan, implement, analyze, monitor and advise on clinical trials for rare neuromuscular diseases. More recently, I have been involved in advising on post-marketing pathways. I do this, however, on a voluntary basis. Any dollars that are not used directly for travel I donate immediately to charity.
I've been asked to address the committee on issues of access and coverage of rare disease drugs with evidence development in the context of the review process. I genuinely think this is a very negative focal point for many other aspects and issues that swirl around the whole conversation of development of a rare disease framework. As you'll no doubt know, there's a high level of tension in the rare disease space as a drug reaches the late clinical trial stages. The patient organizations, the clinical investigators and practitioners, and the industry sponsors and regulators all anticipate a pathway to access, and yet we are rarely coordinated or cohesive in approaching these critical decisions. From what I understand and in my experience, in most cases it ends in frustration for some, if not all, of the parties. The entire culture of this process needs to change, in my opinion.
As I called for in my 2017 CMAJ commentary, there needs to be a culture change from what appears to be a more adversarial environment to a much more congruent paradigm among all parties that really spans the life cycle of a rare disease drug, a process that has to have clear timelines, better consultation among stakeholders, and more transparency in the evidence review and the access decisions. Paradoxically, I think, this will almost certainly lead to a more rational approach. As it stands, many families have to parade their children through the media. Many drug companies are manipulating physicians and the public. Clinicians and patient groups are reacting in shock to decisions. Regulatory bodies appear to be stifled in real engagement by their internal bylaws and processes.
I would like to provide some thoughts in two areas: one, the paradigm of the process of evidence review; and two, the access to therapy with ongoing evidence development.
First, with regard to the review process, in almost every single interaction I've had with Canadian regulatory agencies that I've been a participant in, regulatory personnel have claimed that reviews for rare disease drug files can and will be done with more flexibility and be more considerate of the context and totality of the data. Further, they often claim that the existing approval processes and evidence review pathways are adaptable to rare disease drugs. However, when the final decisions are made, this rarely seems to be the case.
There's a reliance in the evidence review on the traditional ways of approaching the evidence, which does not acknowledge that rare diseases often do not have the accumulated natural history data and other datasets of interest—such as quality of life data, impact on daily activities, and cost analysis—that you might find help round out the typical review for non-rare disease.
I believe a new lens must be brought to the rare disease drug review at all levels. Ideally, this would be in the form of a comprehensive rare disease strategy and pathway, but smaller intermediate steps could be taken, such as the development of a rare disease review committee that helps inform any regulatory agency at any level when they're confronted with a rare disease drug review.
I would be reluctant to say that conservative evidence-based medicine approaches and a reliance on that sacred “p<0.05” on a primary outcome in a phase III clinical trial has handcuffed us from adequate evaluation of the data in the context of rare disease, but there does seem to be an adherence to this dogma.
In one instance, I was told by a Canadian regulator, after presenting a very compelling meta-analysis of two trials of a rare disease drug, that regulatory agencies do not use meta-analyses. That's surprising, in that this is considered the pinnacle of evidence-based medicine techniques. If used more widely, it would have saved countless lives, dollars and resources in many areas of medicine. In my opinion, we need to shift to a more pragmatic framework for reviewing rare disease drugs.
With this in mind, I would suggest that all levels of Canadian regulatory bodies adopt the GRADE guidelines—the grading of recommendations, assessment, development and evaluation—for reviewing evidence. This largely Canadian-developed guideline framework is used the world over in more than 70 review bodies, including the World Health Organization and NICE, but to our knowledge, this is not brought to bear on many Health Canada and CADTH decisions. They don't use this framework routinely. GRADE allows a more transparent presentation of the totality of the evidence, ranks it on quality and strengths, and then includes the context of patient preferences, risk-benefit balances and cost effectiveness in creating a final recommendation.
Second is the issue of access to novel therapies while evidence review proceeds. Clinicians and patients in Canada are committed to ongoing data collection for rare disease in the scenario where new therapies are emerging on the market. In my area of expertise, SMA and other neuromuscular diseases, we've created a nationwide neuromuscular disease registry with more than 4,000 patients with rare diseases enrolled. They contribute to longitudinal natural history data collection. High-quality data is collected directly from expert clinicians, and the data is curated and monitored in compliance with best standards in health care privacy law. Wide-ranging data items, from biomarkers to patient-recorded outcomes, can be retained and customized to answer questions that regulators may be interested in.
Investment in rare disease registries will build confidence for regulators that long-term data is being collected and that the real-world impact and implications of a new drug will be captured in a systematic way. Disease registries have significant advantages over drug-based registries in being able to capture a sample of patients that more fully represents the actual patient community while evidence review is going on.
In the case of nusinersen for SMA, in Canada we've spearheaded a global initiative that's resulted in a new natural history dataset that's informed by the availability of new treatments for SMA, and harmonization on this new dataset is now processing through 40 national or regional SMA registries around the world. To date, no one from a Canadian regulatory agency has approached the CNDR to discuss what critical items are needed for ongoing evidence development.
Other mechanisms that can bridge the gaps include revamping the special access program to provide access to drugs during the gap between Health Canada approval and pCPA decisions, envisioning various managed access scenarios that would creatively engage industry to get patients access to the drug while the reviews are proceeding, and creation of a national public pharmacare program for rare disease. My understanding is that there are other funding envelopes that exist for specific scenarios such as cancer and metabolic disease, and a funding envelope specific to rare disease would ideally triage and prioritize access in a more timely way, again while evidence review proceeds.
At present the journey of the person with a rare disease is completely unacceptable and seems unnecessary to me, given the collective interest and commitment of all the stakeholders in the rare disease community. In a compassionate country like Canada, we must find a way to be more definitive, more transparent and more responsive to our citizens struggling with access to medication for rare disease.
I appreciate the opportunity to address the committee, and I'm happy to answer any questions. I truly hope that the efforts of the committee will ultimately result in the realization of a rare disease strategy in Canada.
If I listen to Dr. Coyle, I hear him saying that we value a society that will provide an exponential amount of money for people who make themselves sick over the course of their lifetime by smoking, by drinking. There's no question that you get lung cancer; we're treating it and we're putting all of those vast resources into it, but we're leaving behind those who have simply been born with a condition, and there's nothing else they can do, just as I was born with brown eyes or brown hair.
I like to believe that I live in a country where we protect everybody in need; where we protect the most vulnerable, where we have social safety nets in place that are meant to look after everybody who's sick.
In terms of looking at drugs that may or may not show appropriate efficacy, we also have to look at how we're evaluating what that efficacy is. When I sat with the minister of health one day, he said, “Listen, big deal: Billy can walk an extra 750 metres on a six-minute walk test. Why is he worth $500,000 for me?” I was able to express to that minister that it's not just an extra 750 metres; it's walking from his house to his car; it's walking from his car to his, now, place of work, if he can do it. At school, he's able to go from the classroom to the bathroom on his own, without an EA. He's able to fit more into society and become the type of person that the rest of the health care system values, and the value for dollar is actually there.
When we look at value for dollar as well, what we're not doing is looking at the overall ramifications on the health care system. We look at it as a $500,000-a-year treatment. What we're not looking at is parents leaving the workforce, mental health requirements for those parents who are dealing with these devastating consequences of these diseases, mental health of the siblings, or the amount of school time missed for siblings and families. None of that equates into that $500,000 a year; this is the value on these lives.
I feel we need to be able to look after everybody, and there are mechanisms in place to do that. If the efficacy of a drug is a little bit low or the data isn't available, we can look at funding on an interim basis and collect real-world data. Is it doing what the manufacturers say it does? Is it doing what the clinical trials are saying it does? I believe that's a system that can be put in place. I don't believe it will be a burden on the system and I feel that the overall health of all Canadians—not most Canadians—will be impacted and improved.
The fundamental problem with almost every health care system is that they actually haven't defined their objective. Unless we know what the health care system is trying to achieve, we can't address whether or not it has achieved that objective well.
The only health care system that does is Australia. Australia actually has a specific statement that the objective of their health care system is to maximize the health of Australians. If that's what they're trying to do, then they also have a process that makes those decisions, especially with respect to drugs, specifically based on whether this funding will increase the overall health of Australians.
However, even in Australia, we have the problem that we focus mainly on new interventions for which there is a commercial sponsor. That's where the pressure on funding comes in. Things that we used to cover, we no longer cover. In Ontario, for example, we don't cover physiotherapy appointments.
I have a chronic degenerative hip condition, so I go to see my physiotherapist every three or four weeks. It's horribly painful and difficult, but it actually helps. It stops me from requiring a hip replacement, which would cost the system thousands of dollars and probably mean that in 10 or 15 years, I'd be in a wheelchair and my quality of life would be pretty poor.
I can afford to pay for that physiotherapy out of my health insurance from my university. There are many Canadians, those from an immigrant background, who can't afford that basic health care, which is not very expensive. You're talking less than a thousand dollars per year. It would save money down the line in terms of the need for surgery, and it would greatly improve the quality of life of the individual.
I could say that no one does it right, because no one really considers health care as a whole. There are many things we can do to greatly improve the health of the population but that are just not funded anymore because there's no advocacy group. There's no commercial sponsor pushing for that coverage.
The easy answer is no. No one does it right. I'd say Australia goes the furthest by at least defining what they want from their health care system. In Canada it would be the first step that we could actually take; we could make a decision about why we have the health care system in the first place and what the underlying objective is that we're trying to achieve.
To start with, I'd say that the figure of one in 12 Canadians having a rare disease emphasizes maybe the wrong message that the Canadian organization for rare diseases is giving. It seems to imply that rarity isn't very rare and that therefore the impact of making decisions to fund drugs for rare disease which don't increase the overall health of the population might be much bigger than we actually think it is.
Part of the problem there is, what is the definition of “rare”? When we think of rare, we think of diseases for maybe one in 100,000 Canadians, or one in 50,000 Canadians or even one in a million Canadians. Part of the problem is that CORD uses a definition of rarity which I think is maybe one in 20,000—I can't remember—but it's not what people think of as rare.
We really need to realize that rarity is not a binomial issue. It's not “your disease is rare” or “your disease is not rare”. There are different levels of rarity. I can very much understand that a lot of us are thinking about those ultra-rare diseases—those one in 100,000 and one in 200,000 individuals—and that's where I think Canadians might think that there's a value in having some separate process for those ultra-rare conditions.
I think the definition that CORD uses in throwing around those figures like one in 12 Canadians having a rare disease—or one in 10 Canadians, they've even said—is really, really unhelpful to this debate, because we're not really talking about having a disease for one in 2,000 or one in 5,000 Canadians. We're really talking about those ultra-rare conditions that maybe 100 Canadians have or that 50 Canadians or even 10 Canadians have. That's the dialogue that I think we're supposed to be having here, and it's not the idea of the one in 12 figure, which really is unhelpful.
To be honest, if one in 12 Canadians has a rare disease, then we can't treat rarity as special, because almost everybody has a rare disease in those contexts. I think this definition that CORD uses is really counterproductive to this argument.
If we can focus on those ultra-rare conditions, then maybe we might think that Canadian values should reflect some special process or some special funding envelope for that, but that's for you individuals to decide. Clearly, if you've left it up to the general public, the general public doesn't think we should have that special process or special funding envelope.