Cutting-edge approaches to trial and study design, technology, sourcing, data disclosure and medical communications.

What increased investment means for rare disease clinical trials

Share this article

In this exclusive interview for PCT TV, Dr Julie Vallortigara, Research Officer at Ataxia UK - a charity for those affected by the ataxias - a group of rare neurological disorders, discusses how increased investment from pharma is tackling the challenges in the rare disease space and creating new partnership trends.

Read or watch the full interview below.

What are the biggest challenges you are facing around the rare disease clinical trial space?

'The fist obvious one is the limited number of patients available to run a successful trial. By definition, for rare diseases we don't have that many patients living with that particular condition and if you want to try a new treatment, you need enough numbers...It's making sure you engage with all patients available and eligible for that trial and make sure they stay on the trial. So for me the other big challenge is to engage with patients and patient groups early on.

Also because rare diseases have been under researched up to now, we have limited knowledge of how the disease progresses over the years and ataxia is a rare neurological and progressive group of conditions so it is quite complex. So the challenge is to find new biomarkers to be able to follow the disease progression, but also to test the effect of the drug at different stages of the disease. To date, we don't have very good biomarkers depending on the type of ataxia we are talking about, so before we can run successful trials, there is also a need to develop really strong biomarkers.'

How do you see then the rare disease drug development industry changing in the next few years? What improvements do you expect to see?

'We are at an exciting time because rare diseases were not of interest to pharma companies; there was no great investment for new studies or for drug discovery and development programmes before moving on to clinical studies. But in the past five years, the number of trials on ataxias has increased, as well as in other rare conditions, so this is exciting.

I think in the next four or five years, I can see the landscape of orphan drugs being expanded, with more new drugs being developed and tested, as well as more drugs being repurposed. Drugs that already exist on the market licensed and approved for a particular condition, being repurposed for a rare disease from my point of view is one of the best avenues to explore to find effective treatments in a reasonable time frame for people living with a rare condition.

I think what we'll also see in the next few years is more partnerships because the interest from pharma companies is increasing in rare diseases so there are more connections being made with patients and patient organisations. We need to work together more in order to design and run more successful trials and engage with more patients. It's a hope and expectation that more partnerships will happen in the next few years.'



You say you hope for more partnerships - do you see any current trends emerging in types of partnership?

'We are aware that a few pharma companies are investing in natural history studies on ataxia being run at the moment on a European scale, which is great to see. This is a new avenue of partnerships.

Another trend in partnerships we see being developed when talking to pharma companies that we work with is that they are interested in working in more than one type of rare disease...Once a pharma company has decided to invest in one type of ataxia, we suggest some other projects - a natural history study, another trial, a repurposed drug - and they are interested in that too. There is an will to expand to other types of rare disease, which I think is very exciting to see.

One strategy that I think patient groups and pharma companies should go forward with hand-in-hand together is to look for drugs that target symptoms - symptomatic relief drugs. These are desperately needed by patients at the moment. Of course they want a cure, or a drug that will slow down or stop the progression of the disease, but first of all, talking to patients, we know they want something that will help them cope with symptoms.

If you look at symptomatic relief drugs then you need to look at rare diseases as an ensemble of conditions and see which ones have common symptoms. Then you can look at a larger population and you can start to identify targets that might work for that symptom that is experienced by patients dealing with different rare diseases.

So it's about broadening the community. Although we work in ataxia, the rare disease field is a very generous community where people want to share knowledge and expertise. So let's hope our partners also broaden their interest and join this community.'

This interview was filmed at Partnerships in Clinical Trials Europe (Nov 2017).

Share this article

Upcoming event

Clinical Trials Europe

02 - 04 Nov 2020, Amsterdam, The Netherlands
Europe’s largest event dedicated to streamlining clinical trials and improving the lives of patients
Go to site