Jeremy Edwards

Collectively, rare diseases affect around 4%-6% of the global population–about 300 million people, where half are children living with rare genetic disorders. Patient populations for individual diseases are usually small and spread out across many geographies, making it difficult for researchers to find sufficient people to participate in their studies. Unlike more common ailments, historical rare disease data is either not comprehensive or not available at all.

Along with being difficult to research, living with rare diseases is often extremely challenging. Healthcare providers may not have access to relevant information, making diagnosis and ongoing support difficult, with some conditions so rare that doctors may not have encountered them before. Patients usually move from doctor to doctor, trying to get an accurate diagnosis. There have even been accounts of patients waiting nearly three decades for a diagnosis.

It is not that surprising then to see that many of the COVID-19 vaccine trials lacked participants with rare diseases, even though they are one of the patient populations most vulnerable to COVID-19. Unfortunately, rare disease patients are well-versed in dealing with uncertainty–many times, they, along with their caregiver, have to make tough decisions about their health, often with limited guidance from health specialists.

How, then, are rare disease populations navigating the uncertainties around the vaccines and their overall health due to COVID-19?

Rare disease healthtech, Xperiome, and research consultancy Magnolia Innovation, are running a ‘COVID-19 and You’ survey to understand how COVID-19 has impacted the rare disease community. The survey aims to uncover the emotional toll of the pandemic, along with changes in patient and caregiver behavior. It is open to anyone aged 18 or over who has a rare disease or cares for someone with a rare disease. The survey results will be fed back to participants incrementally and shared with orphan drug researchers to help them build a deeper understanding of the needs of rare disease patients, particularly during a global pandemic.

Initial findings from nearly 80 rare disease patients and caregivers that have taken part so far include eye-opening responses that paint a picture of isolation, uncertainty, and an increased sense of urgency to improve symptoms due to fear of hospitalization.

Early finding 1: people affected by rare disease are anxious about COVID-19

When asked about changes in behavior since the pandemic began, 25% of respondents said they were now looking for information about their rare disease more often, and in terms of new behavior, 43% of respondents said they now regularly spend time searching for information on how COVID-19 could affect their rare disease.

Looking at the qualitative data, some respondents feel that because their disease is ‘invisible’ their peers aren’t taking pandemic precautions seriously enough around them. Others are struggling to comprehend the effect coronavirus vaccines will have on their disease and their treatment plans. They are seeking more information and reassurance to make an informed decision regarding the benefit-risk
of vaccination.

“We may look fine and healthy, but our lives, and our risk levels, are much different than yours.”

“Be a bit more empathetic towards us–we are at greater risk than ever.”

“It’s made me a bit more anxious. I’m going to take the vaccine but am worried about the side effects.”

“It just brings out fear of how it might affect us since we’re already dealing with a life-threatening illness–COVID just compounds that fear.”

Early finding 2: rare disease patients and caregivers are emphasizing treatments

Initial responses show a heightened treatment concern in rare diseases brought on by the pandemic. 39% of participants said the extent at which a treatment keeps them from being hospitalized was of increasing importance. Meaning less likelihood to seek treatment in a doctor or hospital setting.

27% of participants also said they are now more likely to search for new treatment options. Participants are starting to evaluate their treatment more closely, with some worried about the effects of immunosuppressants and a higher risk of
COVID-19 infection.

“I wish I wasn’t taking an immunosuppressant during a pandemic, but it has helped me with my rare disease.”

“I worry about drugs suppressing my immune system and COVID.”

“As someone who is immunocompromised too, I’m not about to be getting in a Lyft/Uber or an NEMT Medicaid transportation car to go for appointments for my own safety.”

Early finding 3: lockdowns and shielding measures have always been common in rare disease

Some of the survey participants shared that their condition has prepared them for the COVID-19 measures and normalized a lifestyle they already faced. Others have said these extra measures have heightened the isolation they had felt before COVID.

“I was already masking in high-risk situations and avoiding sick people, so COVID was not a big deal to me.”

“This is a taste of what I live normally, isolated from many friends, and activities.”

“I feel like people need to have more empathy for people with rare diseases or disabilities. Many of us have lived with social distancing, masks, fear of getting sick or dying for years. And many of us will continue going through that. I hope it’s been a wakeup call to employers that you can make accommodations for disabled people like we have been asking for years, like working remotely.”

The early findings from the survey show that there have been significant opportunities for the industry to provide greater support. Rare disease patients and caregivers are anxious about getting COVID-19 and its effect on their treatment and health. As a result, they are spending more time than ever before actively searching for information, yet they find their anxieties and uncertainties unanswered.

Inclusion of rare disease populations in large-scale and accelerated clinical trials such as those for the COVID-19 vaccines will always be challenging. However, it is essential that pharma considers rare disease populations in their analyses of real-world data generated through the mass vaccination programs. Similarly, industry must work together to pool data on the impact of COVID-19 disease and the effectiveness of treatments to understand and communicate both the risk of disease and the benefit-risk of treatment options for rare disease populations.

Moving beyond the effectiveness of treatments and vaccines, the pandemic has created an opportunity for pharma to gain insight into the experiences of those affected by rare disease; what life is like for someone with a disease that isn’t heavily researched, how frustrating it is when answers are not available for important questions, or the feeling of isolation that results from shielding to protect the health of
loved ones.

Given that the findings from the survey to date show there have been no significantly strong indicators of built or diminished trust in pharma, pharma has an opportunity to sway that opinion in the right direction.

No doubt COVID-19 has disrupted orphan drug research, with trial site closures, trial delays, and even cancellations. As trial planning builds momentum once again, industry attention has turned towards the potential for decentralized trials to change the way trials are run in the future.

Early findings from this survey–such as the increased fear of going to the hospital–corroborate those from a report conducted last year, which considered the openness of rare disease patients to decentralized approaches to trials. The report found that study designs involving a mix of home and site visits are attractive as travel to sites is a common barrier for rare disease study participation.

Overall, initial data from the COVID-19 and You Survey shows positive signs for researchers. As the early data shows, patients and caregivers are spending more time evaluating their treatments and how effective they are in today’s post-pandemic world. Could this provide new opportunities for research and an increased willingness from patients to take part in studies?

Learn more about this survey by visiting: 

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Survey data shows individuals are not informed on how COVID-19 could affect their conditions.

Rare Disease Patients Overlooked During COVID

Decentralized clinical trials are already a hot area of interest for CROs and sponsors, but how do patients feel about them, particularly those living with rare diseases? That’s what Raremark, a patient experience network in rare disease, aimed to find out with their recent survey.

 people around the world living with the following conditions: hemophilia, idiopathic pulmonary fibrosis (IPF), myasthenia gravis (MG), and sickle cell disease. Participants were asked about their attitudes and opinions around clinical trials and whether topical factors like COVID-19 had an impact.

People living with rare diseases are interested in decentralized trials

When asked where they would like to receive trial medication and monitoring appointments, participants’ responses indicated a preference for decentralized trials. 57% of participants said they would like to receive the trial medication through a mix of clinic, home, and nearby hospital visits, and 45% would like the same mix for how they are monitored during trials. Few survey participants said they wanted all of their appointments to take place solely at the clinic or solely at home.

Overall, 87% of survey participants expressed no concerns at the prospect of a decentralized approach to trials.

For those concerned about having all their trial appointments remotely, reservations included: possible adverse reactions to the drug, and not having specialists there to help them; while others said they struggle to comprehend all the trial literature on their own.

Looking at features of decentralized trials patients are most attracted to, Raremark found that people with rare diseases liked the prospect of traveling less or traveling for shorter distances when taking part in trials. While 60% of those asked said they liked the idea of having more of the study take place at home, and less time traveling, 50% also liked the idea of using technology, both to communicate with research staff and to have their health monitored.

Could these results be reflective of the unique nature of rare diseases?

Survey participants generally showed a preference for traveling less and for shorter distances to join trials is partly indicative of the nature of rare diseases. Those few who are diagnosed with a rare condition are typically geographically dispersed and limited in their ability to make multiple long journeys; while sponsors often struggle with determining where best to place trial sites. Raremark has seen many cases where patients committed to trial participation fit the inclusion criteria but don’t have a trial site near them, and travel across multiple states for trial appointments just wouldn’t be practical, or bearable.

Rare diseases can have a huge toll on people’s lives, and in some cases, they have to adapt their whole lives around the demands of their health condition.

In a previous survey, Raremark’s sickle cell community members reported visiting their primary healthcare provider 13 times in a 12-month period. Given this, the idea of making multiple visits to clinical trial sites to take part in a study on top of their regular visits to the hospital can be too much for some. It’s not surprising then to see rare disease patients preferring trial designs where travel is minimized.

One of the greatest features of decentralized trials is the use of technology to improve the patient experience.

Conclusion: ease the burden and bring the trial to the patient!

Sponsors don’t need to completely overhaul their trial designs to make them entirely siteless. As the survey data shows, patients still want some face-to-face appointments, but they just want fewer of them—and closer to where they live.

Sponsors need to look at the trial design, consider more systematically the overall patient burden of participation, and find areas that can be made virtual. For example, this can be easily done for some monitoring and assessment appointments through partnering with a technology vendor that can help patients monitor their health via wearables or a smartphone app.

Additionally, sponsors can reduce site visits by engaging home health nurses to conduct those visits in-home, and by engaging local clinics and hospitals so some appointments can be conducted at the patient’s regular doctor’s office. 

Adopting decentralized trial methods in rare disease trials not only improves patient experience it can also bring sponsors multiple benefits. Removing barriers around travel and site visits helps to increase trial retention and keep drug development timelines on track. Seeing patients in their own homes, in a real-world setting, can also help researchers understand how the treatment they are testing is impacting the patient’s day-to-day life.

In addition, people who have been highly engaged in a trial may also advocate for the treatment once it’s approved and ready for launch and they may be more open to helping researchers with follow-up studies.

Want to learn more about Raremark’s findings?

You can see the full report on patients’ clinical trial willingness in rare disease 

87% of people surveyed said they had no concerns about a decentralized approach to clinical trials. 

Jeremy Edwards

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