There are 6,000 - 8,000 known rare diseases. More are being discovered all the time.
A rare disease is a condition that affects less than 5 in 10,000.
Globally, rare diseases are not that rare. 1 in 17 people will be affected by one at some point.
5% of rare diseases have a licensed treatment. We want to develop new ones.
Around 3 million people in the UK will be affected by a rare disease at some point.
We want to make sure that people with rare diseases get the same level of access to treatments as those with more common conditions.
There must be a clear and consistent system through which all medicines for rare diseases will be evaluated, commissioned and funded across the NHS.
Medicines for rare diseases that are available in Europe need to be available to patients in the UK in line with, or in advance of, comparable European patients.
The UK should continue to participate in EU reference networks for rare diseases, in the interests of people in the UK and the EU.
You need a certain level of evidence and the right number of patients for clinical trials to create the data needed to prove that a medicine works. But, by the very nature of rare diseases, the patient numbers –and therefore the data needed –simply aren’t there in the same way as for other diseases.
This year, we will be working with NICE on their review of the methods and processes by which medicines are assessed, including those for rare diseases. We want this to lead to important changes in the assessment process for new medicines that will overcome the data issues and help us bring new treatments to rare disease patients.
The UK Strategy for Rare Diseases can be found here https://www.gov.uk/government/collections/rare-diseases
Our latest blog on rare diseases from Dr Sheuli Porkess.
A report on the case for change in access to orphan medicines.
Share your story about the reality of living with a rare disease and support the Rare Disease UK campaign #rarereality https://rarereality.raredisease.org.uk/