Are rare diseases easy to research?

Primary Ciliary Dyskinesia (PCD), CHILD syndrome, Alkaptonuria, or Spinal Muscular Atrophy. Rare diseases are rare, hence the name! It is estimated that 1 in 17 people in the UK being affected by a rare condition at some point in their lives. So, considering these conditions are rare; does this mean finding good quality evidence on how best to treat them is hard?

Patients with rare diseases must live with their conditions for life which unfortunately can be made short by these diseases. Therefore, one can imagine how hard it can be to get these patients into well conducted clinical trials to generate good quality evidence on understanding and treating these conditions. Not only because there aren’t many of these patients around; but also engaging them can be quite a challenge. This challenge can be made even bigger if patients come from certain hard-to-reach groups (social/ ethnic/ religious etc).

So, if we compare the number of publications on a common condition like Chronic Obstructive Pulmonary Disease (COPD) with publications on a condition like PCD or alkaptonuria in the year 2023 for example, PubMed search shows 1333 COPD papers compared with only 119 on PCD and 30 on Alkaptonuria! You see what I mean.

The scarcity of patient data presents a significant hurdle in the research of rare diseases, with fewer individuals affected by these conditions, gathering sufficient clinical information presents a challenge.

Open Science, or to put simply, the pooling and sharing of data and resources can play a pivotal role in advancing rare disease research. However, unlike the UK, many healthcare systems suffer from a lack of healthcare data standardisation to enable this approach. Furthermore, the UK has one of the best electronic health record (EHR) systems in the world with data going back decades, providing a structured framework for accessing real-world clinical data direct from source.

Therefore, we need technology to help us go better, faster, and further in researching these conditions. Tools like FARSITE that rapidly searches anonymised EHRs to find potential participants that meet the study’s inclusion/ exclusion criteria, identifying only the most eligible participants. Once identified their trusted GP contacts them to invite them to take part. These tools offer a fast and flexible approach to identifying and recruiting participants.

For example, over the last 10 years FARSITE has effectively supported hundreds of feasibility searches, successfully recruiting 20,000 participants into clinical trials consistently achieving a 30% average conversion rate.'

Not only this, but FARSITE can support clinical trials from the point of inception, running feasibility analysis on the target population, and giving a real-life estimate of recruitment potential and geographical distribution.

With FARSITE, recruiting patients with rare diseases into high-quality clinical trials does not have to be hard at all!

Nawar Bakerly

Professor of Respiratory Medicine

Senior Academic Advisor at NWEH