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At the onset of COVID-19, a group of over 30 rare disease advocates came together to take Action for Rare Disease Empowerment (ARDEnt). ARDEnt’s aim was simple: to shed light on the unseen impacts of the pandemic on those living with rare conditions. The goal was to protect the existing services for those living with rare disease, while learning and growing from COVID-19. The hope is that the “Making the unseen seen” report will help to inform the UK’s national action plans and act as a supplement to the new UK Rare Disease Framework. Unlike the new Framework, the ARDEnt report discusses COVID’s impact on the rare community and suggests best practices for rare disease patients moving forward in a post-COVID world.

We are thrilled to have played a small part in this cross-sector stakeholder discussion alongside the ARDEnt founding members: Medics 4 Rare Diseases, Cambridge Rare Disease Network and Rare Revolution Magazine. ARDEnt’s “Making the unseen seen” report captures the rare disease experience throughout COVID and highlights the lessons learned. The report focuses on three key priorities, which mirror those found in the UK Rare Disease Framework, and offers nine recommendations to improve the rare experience post-COVID-19.

The three priorities listed below were identified by rare disease stakeholders, literature and documents from both the UK and abroad. It was clear from the data that impacts were felt along every stage of the patient journey. We will walk you through the findings of all three priorities and nine recommendations below.


• Priority 1: Helping patients reach a final diagnosis faster

• Priority 2: Coordination of care

• Priority 3: Improved access to specialist care, treatment and drugs

Priority 1: Helping patients reach a final diagnosis faster

It is with regret that ARDEnt’s report discovered an elongated diagnostic odyssey for patients. Patients didn’t feel comfortable going to the doctor to seek treatment with the outbreak of the pandemic. In response to an influx of COVID-19 cases, GPs ran at a reduced capacity, which resulted in a decrease in referrals to specialist services. Face-to-face surveillance for years 0-5 was also reduced due to the pandemic.

The impact can be seen as such:

• 4 in 10 patients didn’t want to burden the NHS and GPs in April 2020

• Patients were confused about which services were still available during COVID-19 and were afraid to enter a hospital.

• Referrals to specialist services reduced by 50% in some areas of the UK from April – June 2020.

SWAN UK saw a 52% decrease in online registrations in 2020 vs. 2019.

Priority 2: Coordination of care

One of the positives that came out of the pandemic was the swift uptake of telemedicine by the NHS and patients. Rare patients could now utilise the benefits of remote monitoring such as wearables, video calling and virtual appointments. Although IT problems and examining patients via video or photography has had its challenges, rare patients could remain shielding at home while receiving the care they needed faster and cheaper than had they travelled to visit in person.

The impact of COVID and the shift to telemedicine can be seen as such:

• 83% of patients experienced delays or cancellations in diagnostic testing, transfusions, surgeries, scans or routine appointments.

o Of the 83% of patients who experienced these delays or cancellations, 60% said that the disruptions impacted their wellbeing. Worse, 30% said that the disruptions were definitely or probably life-threatening.

o Neurological rare diseases were most notably affected by the above disruptions due to the absences of therapies that halt health deterioration.

• Pre-COVID, 81% of appointments were face-to-face. By April 2020, 71% of appointments were virtual.

• A SHARE study revealed that 95% of patients were apprehensive about letting carers into their home during COVID.

Priority 3: Improved access to specialist care, treatment and drugs

The pandemic highlighted the fragility of rare disease drug development. When COVID cases started to rise, clinical trial sites had to be repurposed into COVID-19 wards. Researchers were quickly called to the front line, and staff was ushered in behind them to act as their replacement. This was a devastating blow to rare disease research, as many clinical trials were forced to be terminated or withdrawn. Some of these trials were the first and only of their kind for a rare disease.

The impact can be seen as such:

• From 2019 – May 2020, 2,500 clinical trials were terminated or withdrawn worldwide. Roughly 45% blamed COVID for this outcome.

• Trial monitoring was disrupted, which resulted in a lack of validated biomarkers, valuable data and protocol deviations.

• Patients weren’t able to visit a clinical trial site due to safety, travel and shielding restrictions.

• Four months into the pandemic, 70% of clinical trials and studies that were funded by AMRC were either stopped, paused or delayed.

o Funding dried up for rare disease clinical trials across the board.

o Early-stage clinical trials were the most impacted, as recruitment came to a halt and new patients couldn’t join trials.


Despite the heavy negatives, two positives arose from the ashes:

• Clinical trials have begun to move toward a patient-centric approach!

o This approach will benefit patients by reducing the inconvenience, travel and costs associated with traditional clinical trial studies.

• Ethics and R&D approvals have started to become a more efficient and less time-intensive process.

• Small pharma and investors are now interested in finding treatments for rare diseases.

So where does that leave us?

ARDEnt offers nine recommendations to further improve upon the rare patient experience.

ARDEnt’s 9 recommendations

To further improve priority 1:


1. Remote clinical consulting should be optimised. Clinicians should be open to face-to-face consultations and ensure that both consultation methods meet a high level, regardless if a patient prefers in-person or virtual appointments.

2. Use of clinical data in rare disease is enhanced. This will help to support the understanding of diagnostic tests, natural history and service planning for rare conditions. A rare disease data infrastructure must be built.

3. Proactively identify undiagnosed rare disease patients who weren’t seen due to the pandemic. Face-to-face assessments of children aged 0-5 who have not been seen since March 2020 should be scheduled.

To further improve priority 2:


1. Mental health support should be part of the care pathway for people who are living with rare disease, as it significantly impacts their mental health.

2. Treatments, therapies and care for rare disease patients that are essential for slowing the progression of their disease must be protected by law to avoid being disproportionally disadvantaged and compromised.

3. Support group funding models need urgent assessment to ensure stability, as patient groups play a crucial role in a patient’s practical, emotional and educational support.

To further improve priority 3:


1. Decentralised trials and remote monitoring need to be implemented widely, both as a default and (to some degree) a backup.

2. Virtual site visits should be encouraged to allow research to continue seamlessly. This would also decrease the burden on patients and their families.

3. Encouragement for real world evidence to be included as an option within regulatory studies in rare disease in an effort to prevent future damage due to disruption or loss of clinical trials.

More information

If you’d like to read the full “Making the unseen seen” ARDEnt report, you can download it here.

On Tuesday, 11th May, ARDEnt launched the “Making the unseen seen” report in its inaugural webinar. Weren’t able to attend? Catch up on all the action here.

Let us know what you think on social media!

ARDEnt’s “Making the unseen seen” report findings summary

by Blayne Baker time to read: 9 min