CORD 2022 – Toronto

The Canadian Organization for Rare Diseases (CORD) hosted the Rare Disease 2022 Fall Conference in Toronto on November 21-22, 2022.
Katie Allen (online) and Anna Janzen (physical) participated in this conference on behalf of our organization.

Below are a number of short reports from various speakers.

Overall, it was an informative and goal-oriented conference. The Canadian Landscape Patient Survey is already showing great promise for collecting data from patients and will likely be of great use once the analysis is complete. CORD is very positive about the Rare Disease Centres (Centres for Excellence) as a Canadian strategy for care. Additionally, there was a major emphasis that these Centres continue to care for adults and not just provide pediatric care. Challenges were acknowledged regarding the struggles to get orphan drugs into Canada through our current system. Challenges surrounding caregiving compensation were also a major discussion. Many online and in-person participants also emphasized the importance of storytelling in the continued fight for rare disease care in Canada.

As a virtual member, it should be noted that during some of the panels it was hard to hear all the panellists as microphones were struggling to catch some of them so information may be missing.

CORD ran the Canadian Landscape Patient Survey for patients and caregivers to better assess Canadian patients’ needs. The survey closed end of November, but at the conference, preliminary data showed the average time to diagnosis was 3.1 years, the median was 1; 62% of patients incur additional costs when dealing with their rare disease; and 82% of respondents prefer the Rare Disease Centre strategy. Additionally, 83% would prefer that the federal government be the leading governing body for these centres.

CORD uses a 4Ps view of partnerships – Private, Public, Patient, and Professional. Some discussions online suggested this should be the 5Ps and include Patient Advocacy Groups. Which had wide support in the chat.

A major focus for CORD is the Orphan Drug Strategy, approximately 6% of Canadian Rare Diseases under the CORD umbrella have an orphan drug and according to CORD, this accounts for the majority of their individual members. However, there was an acknowledgement that this would need to only be the beginning as rare disease treatments require coverage much wider than just pharmaceutical medications.

CORD has identified 4 main challenges that still exist for people with rare diseases in Canada:

1. Diagnostic odyssey.
2. Economic challenges.
3. Access to orphan drugs.
4. Patient empowerment & voice.

The discussion here online turned to the fact that patients contribute to the body of knowledge, especially when there is limited information on orphan drugs and that patients are the best source of day-to-day information on living with the disease or condition.

It was also acknowledged slow diagnoses and misdiagnoses cost the system far more overall than the correct diagnosis. Building a smarter system is the way forward. On this topic, Maciej Gajewski, from Alexion spoke to the European Reference Networks. He discussed how these virtual networks allowed 27 countries to unite in IDing patients and finding treatment centres. There was an acknowledgement of obstacles such as languages, travel, and cost. As these discussions often end, it was agreed that if 27 countries in different languages can build this system, Canada can build a system over 10 provinces, 3 territories, in 2(3- in Nunavut) official languages.

Health Canada then had the Director General for Drugs with Rare Diseases talk. Consultation that has happened with our community shows fragmented and increased costs of drugs and the feelings of powerlessness when working with the government are common themes. With this in mind HC is working to invest in innovation and seek national consistencies to support the patient outcome. The current goal is to launch the strategy by end of Fiscal 22/23 (around April 2023) and move forward.

Ontario Provincial government then talked about the importance of being strategic with money and getting patients involved. CORD agreed investment in optimal ways was important. Here online chat talked about how though money must be spent strategically, it cannot abandon those with ultra-rare conditions or adults just to focus on pediatrics or diseases with orphan drugs.

Carrie McElroy from Sanofi talked about the challenge of bringing drugs to Canada and how there must be some access to the standard of care. Their focus is the Right Drug for the Right Patient at the Right Time, and this requires cooperation and access.

Focus shifted here to adults with rare diseases and how they are the least likely to have dedicated teams of care and more likely to be misdiagnosed. Further, these Rare Disease Centres must focus on adult care as well as pediatrics, the view here was likely they will need to be linked to universities in some way to guarantee the continuation of research.

The goals of the Rare Disease Centres should be on 4 pillars:

1. Clinical Care.
2. Patient Advice.
3. Research.
4. Education.

Genome Canada also talked about their All for One project using genetic sequencing to identify rare diseases and help with diagnosis. They emphasized drug policies should not be siloed but need to have broader connections to fully support patients. Further, more genetic testing at beginning of diagnosis will help overall. They also believe, arguably, we could have the genetics for every rare disease in the next 5-6 years at the rate sequencing is exponentially rising.

A discussion here also started about the fact rare diseases alone are small, but together we make up a sizable number, 1/3 of beds in pediatric hospitals in Canada are filled with children with a rare disease. When viewed this way it is critical to have rare disease care be a priority for our health system.

The system is struggling not just with the individual struggles of rare diseases but the societal ones too, this is the critical path advocacy has played in moving rare diseases into the public sphere and it is why investing in Rare Disease Centres is so critical. The reality is everything takes too long; often parents or patients know that something is wrong but they must talk with numerous experts and individuals along the way before they are believed.

There was an open discussion here about what needs to be done or what critical areas of focus we can strive for in rare disease care. Online this was hard to take part in and see/hear the discussion but the information structuring the discussion was still useful:

The Key Components:

1. Awareness & Advice.
2. Patient Journey Enabler.
3. Clinical Care Enhancer.
4. Drive Research.
5. Education Foundation.
6. Other.
7. Models.
8. Networks.
9. Focussed Individual Centres.
10. Formal or Informal.
11. Spoke and Hub.

What are the main criteria to be a centre?

This discussion continued through lunch and was somewhat lost online.

The importance of public/private partnerships was emphasized as a benefit to multiple areas of the healthcare landscape in Canada. They provide: clinical relationships, real-world evidence, patient support, and education/research. Many drug companies find Canada large and complicated, making the system hard to navigate. This means drugs are far less likely to come to Canada quickly. Industry Leads continued that private companies need the public side to pay more in Canada, they are doing a lot of work behind the scenes that the patients may not see, and the public needs to step up in this regard.  (This panel did not have a public representative, so it felt a little unbalanced).

The next topic discussed the value of rare patients. Unfortunately, the reality in Canada is that government budgeting follows a status quo, meaning change is hard and inefficiencies often compound. Value-Based Healthcare focuses on patient outcomes for the most reasonable cost. However, for this, we need better patient-reported outcome measures. The government must factor beyond cost and into the scope of the development of treatment and the complex value of patient outcomes.

Here the conversation turned to the PMPRB (Patented Medicine Prices Review Board) a Canadian administrative division that can often provide obstacles for rare disease drugs to get to market in Canada. The general outcome of this discussion was that Patient Quality of Life must be the centre of these decisions. We need to reframe the thinking from drug cost to the opportunity created. Further, right now criteria don’t often provide to those most likely to benefit and this needs to change.

There is still much to be considered around PMPRB including whether private companies or governments should get to decide how much drugs should cost. But this was beyond the scope of this conference in some ways. CORD has some excellent information on this topic through its website and webinars.

All would benefit from more integrated approaches and diagnoses. A wrong diagnosis often costs our system between $10,000 – $100,000. Further, money spent on rare disease treatments often provides a net gain in treating early. The whole Health Economy must be looked to. While it’s uncomfortable sometimes to talk in dollars and cents it’s what drug companies and payors use, and there is evidence that early treatment works; in rare cancers studies have found $1 in early saves $3 in treatment later. Each barrier must be addressed individually.

The next talk discussed patient data management systems. The importance of registries for tracking data is critical and great work is being done to ensure this data can be used to make the best decisions possible.

The day began with a debrief from yesterday. The first talk was on Social Innovation in Pharma (SPIN) and how it is demand led not supply-led. One of the major success stories of SPIN in Canada is the Car-T therapy for cancer; using university research a patient’s own cells are programmed with a viral vector that targets the cancer cells. Once you can get going on this research you can hit critical mass rather early and you can get the treatments to those that need them. The future includes looking into enzyme replacements, and the National Research Council of Canada seems to be really behind SPIN’s future.

This could remove “artificial barriers” existing between care and research. The view can be “research is care”, and could have major benefits for rare disease treatments beyond drugs. Multiple papers are expected out in the next few months.

Health Canada returned to discuss the regulatory model Canada uses to approve drugs, specifically through the Special Access Program where most rare drugs go through. Three timeline options exist Standard – 300 calendar days, Priority – 150 CD, and Notice of Compliance – 200 CD. There is currently some regulation innovation going on in monitoring, advanced products, agile licensing, and information for Canadians. Further, allowing rolling reviews and having a pediatric priority list will help meet unmet needs.

The private sector then talked about how despite the above, financing is still a struggle in Canada, we are missing the incentive side for R&D by pharma companies. Alternative financing needs to be considered such as: upfront financing, subscription models, pay-for-performance, or mortgage models. They feel there needs to be collaboration upstream.

An additional challenge raised by patients and patient organizations was the vast difference in care from province to province. Patient consent, doctor knowledge (lack of), financial risks, and malpractice insurance all can create a storm of problems in getting treatment.

Next, was an incredibly moving story of one family’s journey to cure SPG50 and save their young son Michael. In 3 years, they went from diagnosis to a genomic treatment during Covid.

Major evolutions and advancements in our society today could be utilized for the research and development of new therapies. One example provided was how wearable tech, like watches, could provide real-world data collection.

Focussing back on orphan drugs some general statistics were provided to bring a drug to market, namely that it costs about $1-3 Billion, takes 8-25 years, and only has a success rate of 4-6% on average. Rare Disease drugs notably have a much higher success rate at about 18%. Also, some interesting facts here were discussed how rare disease drugs can often become major pharmaceuticals including Viagra, and cholesterol control medications.

A researcher from UBC – Bruce Carlton then discussed the importance of using genetics to ID potential dangers in medications and treatments, specifically in pediatric cancer. A simple genetic test can prevent death from a common cancer-curing drug. Again, this demonstrates the power genetic testing has but also the importance of continuing to take the extra time in doing research and investigation in treatment.

The last panel discussed some successes and some challenges we are still facing from the patient perspective. One of the major successes was in the Haemophilia Society’s treatments and the creation of Canada Blood Services to ensure blood is thoroughly tested when donated in Canada. One major challenge is still the compensation of caregiving which needs to be addressed, especially for women who often account for the majority of caretaking hours.