Caroline: In rare diseases, the difference between treatment and no treatment is often stark. Unlike more common diseases, which might have a crowded market and many treatment options, rare diseases usually don't have any treatments at all. Even if the drug you’re working on is just another option with better safety, it can make a tangible, life-changing difference for patients. It's a remarkable thing to witness.
Richard: Another example that stands out in my mind is when we supported an HTA submission. During the submission, a video of a patient before and after treatment was shown. The contrast was so stark, it had a powerful impact.
I remember people saying that the video shifted the conversation away from technicalities and numbers, and refocused it on the patient and the real difference the treatment could make.
It was a great reminder that, especially in rare diseases, you have to think deeply about the patient’s experience because their options are so limited.
Caroline: That's an interesting question right from the start because, in rare diseases, you often have to come up with very pragmatic solutions that are both efficient in terms of your client's budget and effective in delivering the desired outcome. There are usually many data gaps—few patients, a lot of retrospective data—and the question often becomes: Do we conduct a Delphi panel? Could we just do some clinician interviews? What's going to give us the best results within the client's budget, given the challenges of rare diseases?
Richard: From my perspective, this kind of question is really at the heart of the market access and value process. It's all about thinking through return on investment and how to communicate that value to payers. When it comes to orphan diseases, the situation is very different from more common disease areas. There are fewer patients, and the costs are much higher. You can't rely on the usual ways of assessing value; instead, you need to get creative. This process really brings out the need for creativity and the ability to think outside the box.
Caroline: Yes, definitely. One of the challenges we've faced recently is related to caregivers, who are often crucial in rare diseases due to the severity of the conditions. What we've found is that if a drug helps keep patients alive longer, it can inadvertently place a higher burden on caregivers simply because the patients are living longer. To address this, we’ve developed a solution where we model an increment in utility for caregivers rather than a disutility. This approach highlights the positive impact we’re having on patients by extending their lives and keeping them in earlier, less severe health states, which makes it much clearer how we want to demonstrate the value of these drugs.
Richard: As far as we can, all the work we do is client confidential. However, I believe it’s really important to talk about the work we do because it helps raise awareness of the specific diseases themselves, as far as we can, and also the solutions we provide. We often share our insights at conferences, through posters on various methodologies and techniques. I think this is crucial.
The core of this field is about finding the right way to communicate value, particularly when it comes to understanding the economics.
New approaches need to be developed to address challenges like the lack of data, single-arm trials, and small patient populations. By sharing our work, we can raise awareness of orphan diseases and the patients affected, while also highlighting how we can support these areas from a Health Economics and Outcomes Research (HEOR) and market access perspective.
Read more about FIECON's Rare disease case study. Please visit: HTA submission success for a rare disease therapy
