RARE DISEASES - Raising awareness, listening to patients, making a difference

PME: What was your career path to your current position?
Lorna Pender (LP): I was a hospital doctor in medicine for just over four years, during which time I worked my way through different medical specialties and treated many patients with rare diseases. I had always been interested in bringing more cutting-edge treatments and research opportunities to patients, so I decided to focus on medical writing for a while and how clinical trials operated from that side of things.

I then decided to fully immerse myself in industry and joined medical affairs to help drive a more cutting-edge medicines landscape for patients. This exposed me to Early Access Programmes (EAPs) and one of the most rewarding parts of my career was when I could see how a paediatric programme enabled children to go from not being able to play in the waiting room to running around. It was an impactful reminder of the benefits that EAPs can bring to patients and their families.

I worked in medical affairs for a number of years on different conditions, programmes and research, and I was loudly advocating the importance of incorporating the patient voice into the design of clinical trials and medical strategies. That’s why I decided to join Clinigen and work solely with patient organisations, experts and advocates to drive a patient-focused industry approach and bring medicines to more people.

PME: Do you feel that working as a doctor and then in medical affairs has given you a detailed overview of the different sides of the patient experience?
LP: It’s definitely a massive benefit to walk in the shoes of the rare community and be able to apply lived experience to my work, as I also identify as part of the rare community myself. I have a rare form of alopecia, and I had the experience of sitting in the chair as a patient and being told that there weren’t any treatment options available and that I was not going to be referred to a clinical trial. I definitely identify with a large part of the rare community and I do a lot of work as a patient expert, such as explaining to regulatory authorities what living with a rare condition is like and what matters to me as a patient.

PME: How do Early Access Programmes work and what role do they play in the treatment of rare diseases?
LP: In a nutshell, EAPs are a route or pathway for people to access unlicensed treatment. They are usually operated because there’s a population of patients with a life-threatening or seriously debilitating medical condition that have no available treatment options. In other cases, there are treatments available that have been attempted but not been successful, or there are treatments that have been approved in different countries but not the patients’ country.

I mentioned clinical trials earlier and this is the other route to unlicensed medicines that patients can take. Unfortunately, clinical trials have very strict eligibility criteria. Imagine seeing a doctor and being told that you’re not eligible for the clinical trial because you have too many other medical conditions or, even worse, you live somewhere where there is no clinical trial site. EAPs represent a route to treatment, whereas clinical trials represent a route to research.

In terms of the clinician perspective, EAPs provide an option that they can offer their patients for a route to treatment, which is very positive for them. Ultimately, however, pharmaceutical companies decide whether or not they’re going to open up EAPs. That’s why raising awareness of medical conditions with high unmet clinical needs, such as rare diseases, is so important.

PME: New data released by Clinigen has revealed that 32% of the rare disease patient and carer community are not aware that patients can access medicines before they are licensed. What are some of the reasons for these knowledge gaps?
LP: It’s multifactorial. Often with rare diseases, there isn’t a named clinician. While paediatric patients usually see the same clinician who is their source of medical information, there’s a huge proportion of people who see lots of different medical specialists. There isn’t a standardised mode of access for quality medical information about EAPs, so that’s one of the biggest challenges.

The other aspect is that talking to the general public about unlicensed medicines is a heavily regulated landscape and we’ve got lots of laws surrounding it. There really does need to be a lot of engagement with patient advocacy groups and, while many of them have the information on their websites, where can patients go when that isn’t the case?

Usually, if you’re the only person or one of few with a specific medical condition in your country, then you look to people who have the same condition for support, and often that’s found within a patient organisation.

However, many of these just don’t have access to that information, and often that’s because it takes somebody sitting in the patient’s chair to realise that there are no treatment options or access to clinical trials.

There’s also the aspect of health literacy, and that’s something that we’re very passionate about at Clinigen. We know that health literacy levels are not universal, so we want to co-create with the patient community accessible patient education materials that are translatable and available to all.

PME: What are some of the other barriers that currently exist to accessing unlicensed medicines?
LP: I think that one of the biggest barriers is the difficulty people have in navigating to centres of excellence and finding specialists who know about their condition. In our survey, we revealed that just as many people will ask a clinician as will do a Google search. People are still dancing in the dark about delivering healthcare services and medical information to the rare community.

Rare Disease Awareness Day was marked on 29 February this year and this helps to raise awareness and build momentum for better services for the rare community as a whole in the healthcare sector.

PME: If patients have an ultra-rare disease, for which there are no EAPs or clinical trials, and little to no information on the internet, where do they go from there?
LP: There are quite often ‘umbrella rare disease patient organisations’ that tend to be much larger and better supported for many different medical conditions. They are usually the next step for people in the rare community who don’t have the answers that they need to be able to navigate access to treatment.

There are only a few in the UK, but there are larger ones like the European Organisation for Rare Diseases (EURORDIS) in Europe and the National Organization for Rare Disorders (NORD) in the US that represent large nations and continents of people in the rare community. This tends to be the route people take to get information and support.

PME: Have you found that more people have been diagnosed with rare diseases in recent years?
LP: We are getting better at diagnosis, which is a very positive message. We are currently doing a lot more genome-wide testing of mass populations in England under the NHS Genomic Medicine Service, so there’s a more national-level focus on the diagnosis of rare diseases. We are also doing a lot more newborn screening for a much broader range of different inherited rare conditions.

The upside of that is we’re seeing a massive increase in things like cell and gene therapies, genetically targeted therapies and scientific innovations that really are cutting edge. One of the most renowned managed, or early access, programmes was within this remit: a gene targeted therapy that was launched by Novartis for spinal muscular atrophy.

We’re seeing more of these types of therapies being developed, which is great news for the rare community. However, this is why Clinigen’s NaviGATE educational programme for rare disease patient advocates and organisations is so important. We want to upskill and empower people for when these therapies are ready to go, as they will most likely be available through EAPs.

PME: There are more than 7,000 rare diseases that impact over 300 million people globally. What are some of the key challenges that rare disease patients face?
LP: As part of the NaviGATE programme, my first approach was consultation. I wanted to actively listen to the rare community about what their key challenges are. The first priority that came out of that was education about EAPs. People are very much in the dark about how exactly they join these programmes, where they are and which clinicians they need to see. These are the types of navigational aspects that have an unmet need.

The lack of a recognised and standardised healthcare service for rare diseases is another massive challenge. The regulatory and healthcare policies are where advocacy groups are so actively building momentum for change. Healthcare policies can implement a positive change for many people and there are definitely opportunities for governments to get involved.

PME: What are the main objectives each year for Rare Disease Month?
LP: It’s about building momentum for awareness. Coming together globally and having a movement that everybody can get involved in is so important. Politicians inform us that there needs to be momentum like this for them to really take notice and listen to what the people have got to say.

Rare Disease Month also promotes a cross-collaboration between different stakeholders. The whole community coming together is rare in itself, so it really is a celebration, and it being on the rarest day of the year (29 February) is even more important. I think it means a lot to the community.

We had some open answer questions in our NaviGATE survey and one of the most impactful quotes was from a person from Pakistan, who said: ‘Good luck having a rare condition in Pakistan because you’ll be on your own.’ That really stuck with me and shows why it’s so important to have these types of opportunities to engage with the rare disease community.

PME: What more can be done to improve healthcare for rare diseases?
LP: One of the things that is often overlooked is that access to healthcare requires financial means. Quite often, travelling to a hospital to seek a diagnosis is more than many people can afford, so there is a large proportion of the rare community that remains undiagnosed. The same goes for clinical trial access and EAPs, with hospital site visits for these requiring out-of-pocket expenses. These are the types of things that are not taken into consideration enough and we can do a lot more to ensure that what we do is inclusive.

PME: Countries that are struggling on a number of levels must find it much more difficult to identify rare disease patients and get them into treatment programmes. How is this evolving in countries that have traditionally struggled with this?
LP: I’m part of a global, multistakeholder group called ‘Patient Focused Medicines Development Sustainability Task Force’. It involves patients, industry, researchers, etc and is working towards building a more patient-focused sustainability initiative, as well as activities that we can all take part in to drive a more sustainable business.

This involves programmes such as the humanitarian supply of medicines and drugs to low- and middle-income countries that are either at an affordable cost or free of charge. Many of our programmes are EAPs where the drug is free. These are the types of sustainability initiatives that can really make a difference to the global community inclusively. Clinigen and I are very passionate about that and fortunately I’ve found many more like-minded people.

Rare diseases – raising awareness, listening to patients, making a difference