As chair of the all-party parliamentary group on sickle cell and thalassaemia, I know that this subject is of great interest to people with thalassaemia. I will focus my speech on one of the four high-level priorities of the framework: improved access to specialist care, treatment and medicine. People with rare diseases say that the tantalising prospect that one day there will be a cure for the rare diseases affecting them is something that gives them hope and huge motivation, and that drives them to campaign passionately for the development, and then approval, of that medicine or therapy. When it comes to assessing the effectiveness of such drugs or treatments for rare diseases, however, the approach taken by NICE leaves a lot to be desired.
Recently, NICE gave a provisional negative appraisal to a ground-breaking gene therapy treatment that would have eliminated the need for the chronic treatment of many people with a severe form of thalassaemia. One of the contentious issues with NICE’s assessment has been the inflexibility of the arbitrary discount rates. The small number of people with rare diseases means that there is often insufficient evidence available to satisfy NICE’s assessors. I note that NICE has undertaken a methods review process in which the discount rate is a key area of potential reform, which I very much welcome. Additionally, I want to ask NICE to take greater account of the testimony from patients, because only by understanding patients’ lived experience can a committee properly assess the effectiveness of a drug or treatment.
For people with rare diseases such as thalassaemia, the approval of a drug or treatment can be the difference between life and death. It is imperative that we get this right, and that means things have to change quickly. We need the implementation of an action plan for the rare diseases framework, and we need it now.