On April 28th, the virtual World Orphan Drug Congress USA 2021 was held. The program featured a variety of subjects relevant to the development of orphan drugs and the rare disease community. Patient Worthy had the privilege of attending some of the sessions during the day. One session we attended was a panel titled “Current Challenges Facing the Rare Disease Patient Community.”
The panel was moderated by Samantha Parker, who is the Chief Patient Access Officer for Lysogene. The participants on this panel were:
- Amanda Moore, CEO of the Angelman Syndrome Foundation;
- Durhane Wong-Reiger, President and CEO of the Canadian Organization for Rare Disorders;
- and Avril Daly, CEO of Retina International
The panel was conducted in a Q & A format.*
Samantha: What are some challenges, or things that are not working well with your experience with the industry?
Amanda: The challenge for advocates is to reach out to different aspects and players in the industry. The patient voice is vital in those steps and that doesn’t always translate. Still things seem to be changing and there is a lot of duplication of efforts; for example a burden of disease report. There is a need to find a better balance of collaboration and competition in the industry if the needs of the patients are going to be prioritized.
Durhane: Now Canada is not necessarily the big center of research and development compared to the US and EU and sometimes we are second place when it comes to feedback, advocacy, and access. It’s a big stretch and there’s a lot of competition as more diseases are getting attention from the industry. Sometimes treatments tend to cluster around already existing therapies. We are still a long way from equal access to trials and treatments. How do we say to patients that they just have to wait? Lives are on the line and it’s not good enough. How is the industry going to be more inclusive and truly think on a global scale when it comes to addressing some of these concerns? We’re all stretched too thin. There is a disparity in resources and opportunities.
Avril: Research and development is driven traditionally by scientific discovery. Generally most industries look for input and demand before selling a product. Many large companies are interested in developing therapies for rare disease but they are having trouble in their relationships with rare disease communities. It’s a critical and fundamental role and not all of the companies are there yet. They don’t know how to interact and the patient input is still too far away.
Samantha: In terms of a Burden of Disease Study or any instance where multiple companies are competing for the same opportunity, how does the rare community deal with that?
Amanda: This is something we had to deal with very early on as Angelman got more attention from the industry. Companies tend to gravitate towards a single disease once there has been a research breakthrough. We sought to create a consortium of industry that would work together to address these concerns. We are still in the midst of working on this. We have seen some collaboration but there are certain areas where drug companies are hesitant to work together, such when seeking biomarkers. A lot of our families don’t understand what the drug development process is like so a drug failure often can feel really devastating. It’s important for families and patients to be as informed as is practically possible.
Durhane: There are a lot of international patient groups that have been able to step in to get the industry to work together and trying to intervene before competition begins. Control of the trial process on the part of patient groups has been a significant change in recent years. The patient community should put out some guidelines for industry that can encourage better coordination in the regulatory sphere because the more things scale up the more complicated it becomes. These therapies are going to be costly and that will mean having a considerate approach that ropes in the patient community. A good relationship that earns the trust of the community is vital for success. With a smaller company, they were often just devoted to your single disease and knew the patients by name. It’s so much more difficult now that bigger companies have gotten involved.
Avril: When we are talking about the international level, my organization has found a similar situation. It’s difficult with larger companies that aren’t as invested in the rare disease space. But I think that a fresh understanding is emerging. There is a lot of complexity, especially in the EU as each country has its own rules. It’s not something that is going to change overnight, but it is definitely something that will need to be discussed. A critical piece is that we are drawing from the same data. Too much of a disparate approach to the same thing. We have to work together from the level of research all the way to the implementation of a treatment. An important thing for the companies to understand is that patients are going to have a lot of questions. Don’t be the company stuck in front of a regulatory agency with patients saying that your product isn’t actually going to help them.
Samantha: What are the main issues around the topic of data and the handling of information, such as natural history studies and patient registries?
Amanda: Our number one thing about data is that there was a lot of data, but it didn’t synergize well together and access to the data was far too difficult. There was a big need for collaboration as the way forward for progress. That would be a big win for researchers, families, and industry. We need a platform that works with all of the different stakeholders. Sometimes the companies don’t want to share it. But it’s critical to accelerate progress. Those were our problems. Patient involvement is key here to get patients to sign up for studies and registries. The key is just getting people to be a part and to stay involved throughout.
Durhane: A big advantage that some of these patient groups have is that there are now resources available for natural history studies through the FDA and comparable agencies, as well as conveying the importance of registries and natural history studies. I love what NORD has been doing with the FDA in this area. The only reason we are where we are is because information was kept open. The info and the tech are there. Between our international rules there has to be an agreed upon set of rules, and data has to be made available to everybody. Data should be pre-competitive.
Avril: Most of the time rare disease patients are eager to share their information. Often parents who have lost children continue to stay active and are committed for the long haul. 97 percent of surveyed patients said that they wanted to share their own data. Patients have the right to give or withdraw their data as they see fit. They are the ones dealing with both the clinicians and scientists, as well as the industry. This means access to policymakers is important as well. There are some good examples emerging. The European Reference Network has been a valuable resource in this area. Still, it’s all in its infancy. There are also considerations about how to bring in people from around the world into the conversation. This means people from different cultural and ethnic backgrounds. Rare diseases can be vastly different but many of our challenges are still the same. We always say to industry partners that we are not seeking a purely transactional relationship.
Samantha: Overall, what is the biggest challenge the rare disease community is going to face in the coming months and years?
Amanda: I think that working in silos, without feedback from each other, can get really dangerous. We need to amplify each others’ strengths through collaboration. Everyone has to be ready and willing to come to the table.
Durhane: Our greatest opportunities are also our biggest challenges. There are just too many people that haven’t yet gotten involved. How are we going to ensure that we don’t leave people behind? Only about ten percent of rare patients around the world actually have access to the treatments that can help them.
Avril: Collaboration is the key to success, and I think it is also the biggest challenge.
*Answers have been summarized and edited for clarity.
