Rare Disease Patients Overlooked During COVID

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.

Quotes from survey respondents:

• “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.

Quotes from participants:

• “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.

Quotes from participants:

• “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.”

Raising the profile of the forgotten 6%

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.

Impacts on orphan drug research

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: https://bit.ly/3bLZhht.

Jeremy Edwards, CEO, Xperiome