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Doing nothing is doing harm

Doing nothing is doing harm

There are over 6,000 recognised rare diseases but only about 250 of them have treatments so clinical research is central to any discussion about rare diseases. However, we do very few studies now in the UK and we are losing out. We need to change the culture around clinical trials. They are good for patients, great for medicine and revenue-generating for the NHS.

But the enormous administrative burden, over-the-top liability regime and prohibitive insurance requirements scare most groups away. The need to submit different paperwork and get separate ethical approvals for each centre is a big issue in rare diseases as trials need to be done across a large number of centres to aggregate sufficient numbers of patients. We need a standardised, central approach that provides Pharma with a much more user-friendly platform.

When it comes to letting patients test new medicines, regulators take a paternalistic one-size-fits-all approach. In reality, patients attach different weights to risks and benefits and their tolerance for risk may change over time according to their disease state and life circumstances. The majority of rare diseases are degenerative and debilitating. With each day that passes, patients may be irreversibly deteriorating.  Patients may be on a downward trajectory or even facing death. In reality, rare disease patients often have to compare the risk/benefits of any new option with the risk/benefits of a status quo involving no effective treatment options. Doing nothing can be doing harm. The risk/benefit equation is fundamentally different for rare diseases. 

Patients with rare diseases typically benefit from specialist medical advice at specialist centres and they tend to become expert in their condition. There is a level of understanding and a layer of risk-management that does not exist in regular medicine. Patients, in partnership with their specialist medical team, develop a sophisticated understanding of risk. This is important because it means regulators could delegate certain risk/benefit determinations down to the patient-doctor level in a way that would not be safe in regular medicine. 

As a result of social media and better organised patient advocacy, the patient’s voice is being heard and resonating now more than ever. The risk/benefit equation needs to be understood in the context of debilitating, life-limiting conditions. Patient groups have a role in making sure regulators understand rare diseases and current standards of care so trials are designed around outcomes that are relevant to patients. While everyone accepts the need for robust science and controls, it is also clear that the unmet needs of real-life patients deserve more creative regulatory thinking (e.g. a more flexible and adaptive licensing model with a constant cycle of data and review) so that we leave less therapeutic opportunity on the table.

Les Halpin is shining a light on these important barriers to the development of new treatments for rare diseases and I fully support the campaign. Lives are at stake and doing nothing is doing harm.


Oli Rayner is a patient advocate with Cystic Fibrosis, he blogs at and tweets @Oli_Rayner


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