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How Rare Diseases Were Affected by the COVID Pandemic

Raconteur: Rare Disease Issue

The latest issue of Raconteur (published as a supplement in The Times, UK) took a deep look at the rare disease landscape, including how rare diseases were affected by the COVID pandemic, and how patients who are engaged in the drug development process through clinical trials can build connections through digital platforms. It also highlighted how the increasing use of decentralized clinical trials (DCTs) is poised to improve both the patient experience and outcomes in the coming years.

The definition of a rare disease varies but are generally conditions that affect fewer than 1 in 2,000 people, such as: multiple sclerosis, narcolepsy, primary biliary cholangitis, fabry disease, cystic fibrosis, hemophilia, muscular dystrophy and Huntington’s. And “rare,” this category of disease is collectively common. Rare disease patients as a whole make up approximately 5% of the world’s population. Each condition is individually rare, which often causes this large population to be overlooked, especially in times of population-level medical crisis.

Living with a rare disease during the pandemic

Raconteur’s lead story focuses on these oversights, specifically during the Covid-19 pandemic. Everyone has been negatively impacted by the pandemic, but it has been especially challenging for people living with rare and complicated health conditions. Rare disease patients and their families consistently report care inadequacies, such as diagnostic delays (it can take on average 4-5 years to get a diagnosis) and reduced clinical services. Diagnostic delays specifically can be life threatening for many patients. Already difficult to quickly and accurately diagnose, the pandemic made identifying care for new rare disease patients extremely challenging. Although telehealth was a lifeline to many, including existing patients in the rare disease mileu, this type of medical visit is not usually suitable for spotting signs of certain rare diseases. Compounding these issues was a decrease in the number of referrals to specialists who perform tests to confirm the diagnosis of rare conditions decreased. For those already diagnosed pre-Covid, care was significantly limited as specialists were diverted to pandemic-related patient care and travel restrictions. This, coupled with increased health risks, made it hard for rare disease patients to see specialists.

In the wake of pandemic-related challenges, there was one beacon for rare disease patients and their families - digital communities. While the whole world moved to online connections, this form of communication was especially critical for those in the rare disease community. Disease-specific and general rare disease discussion groups popped up globally, allowing patients to connect with others that share their experiences. Equally as important, professionals that serve this community were also part of the online networks, enabling access to research, empowering advocacy efforts and supporting data-gathering that furthered critical work including significant medical research.

Clinical trials are moving to a decentralized approach

Medical research innovation was spurred by the COVID-19 pandemic; the growth of DCTs will likely remain one of the best models to accelerate growth and improve rare disease treatments in the future. Traditionally, the way clinical trials have been conducted hasn’t favored the rare disease community. The top barrier has always been distance and travel given that much of the research was only conducted in large cities. Almost 40% of rare disease patients have to travel over 60 miles for healthcare, and clinical research sites are often even further away. The solution to many in the industry is clear – decentralization. Advances in healthcare technologies mean many clinical trial procedures can take place virtually, from wherever the patient is at any time. THREAD is playing a key role in the shift to DCT and hybrid studies by helping biopharma and life sciences organizations capture patient data remotely during, between, and in lieu of in-clinic visits. “Our experience taught us how important it is to give people with rare diseases more opportunities for their care,” said Joyce Moore, Head of Rare Disease Solutions at THREAD. “New data dashboards…along with the platform’s ease-of-use led to a 50% increase in registry participation and successful patient recruitment across 12 new clinical trials.

The healthcare industry has been forced to adapt, bringing great improvements to rare disease patient care and treatment. For more information on these and other stories affecting the rare disease community, read the Raconteur Rare Disease Report.

Joyce Moore
Head of Rare Disease Solutions, THREAD

Joyce brings over 22 years of clinical drug development expertise where she has worked effectively across multiple disciplines, therapeutic areas, and clinical stakeholders. For the last 16 years, she has focused on patient engagement and has a deep understanding of the Rare Disease and pediatric clinical trial space.

Joyce’s LinkedIn page