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.