Rare diseases are collectively relatively common – globally 1 in 17 people will be affected by one at some point. This equates to around three million people in the UK. We have updated our facts and stats on rare diseases on our website here.
The Government published updates plans for a genomic healthcare strategy yesterday. This is an important development. By focusing on personalised medicine and genomics, pharmaceutical companies can play a leading role in improving the lives of people with rare diseases.
However, we’ve still got a lot more to do. 95 percent of rare conditions have no licenced treatment – and this has to change.
Part of the solution is to tackle some of the data challenges in approving rare disease medicines. A certain level of evidence and the right number of patients is needed for clinical trials to prove that a medicine works. But, by the very nature of rare diseases, the patient numbers – and therefore the data – simply aren’t there in the same way as for other diseases.
That’s why this year, we will be working with NICE on their review of the process by which medicines are assessed. We want this to lead to changes in the assessment process for rare disease medicines that will help us bring new treatments to patients.
Currently European Reference Networks (ERNs) connect patients, clinicians and researchers across Europe. They allow expertise about rare diseases to be shared and allow patients across Europe to take part in clinical trials for new treatments.
They are extremely important in the drive to develop new medicines, improve diagnosis and share knowledge. As the UK negotiates a new relationship with the EU, we want to make sure the UK and EU can continue to cooperate in this area.
Rare Disease UK and the Genetic Alliance have launched their own #ProtectERNs campaign calling on the UK to remain part of the EU reference networks.
The UK Government agrees. In its outline White Paper on the Future Relationship with the European Union it said:
“To support cooperation, the UK should seek to participate in specific policies and networks which benefit businesses, researchers, citizens and patients across the UK and the EU, including: a. the European Reference Networks, which support European cooperation and knowledge sharing related to clinical care and research on rare diseases […]”.
The political declaration on the future relationship with the EU also highlights the need for co-operation, particularly on health security and public health.
But whatever the Brexit outcome, the pharmaceutical industry will continue to work to make sure that people with rare diseases get the medicines they need. We owe these three million people in the UK nothing less.
95 percent of rare conditions have no licenced treatment – and this has to change.
Dr Sheuli Porkess