Health: Innovative Medicine

Lord Walton of Detchant Excerpts

Tuesday 1st April 2014 Lords Chamber

[Lord Walton of Detchant (CB)]

My Lords, in thanking the noble Baroness, Lady Thomas, for initiating this debate, I declare an interest as the honorary life president of the Muscular Dystrophy Campaign. I hold similar appointments with many other medical charities.

This is a very important issue. I have given support over the past few years to the Rare Diseases Research Consortium and Genetic Alliance UK, chaired by Alastair Kent. Many of the 300-plus rare diseases that have been carefully characterised and identified by those organisations affect the neurological, neuromuscular and other, similar systems. Some are fatal but virtually all cause increasing disability of various kinds. Advances in molecular genetics over the past few years have been immensely exciting. In many of these diseases—in fact, the majority are genetically determined—the causal gene has been identified and, often, located.

The missing gene product has also been identified, as in, for example, dystrophin, normally a constituent of the muscle fibre membrane missing in Duchenne muscular dystrophy. Similarly, in Pompe disease, a condition causing severe muscle paralysis and affecting the heart, acid maltase has been identified as the missing substance. However, in many other neurological disorders, including the various cerebellar ataxias, the condition has been found to be due to multiple amino acid triplet repeats that actually, instead of being absent and therefore not causing absent metabolic activity, damage the human cells.

Treatments have begun to emerge in diseases such as cystic fibrosis, and acid maltase can be effectively treated by gene therapy in Pompe disease. As the noble Baroness, Lady Thomas, said, haemolytic uraemic syndrome, which affects only a few dozen people in the UK and is inherited, is effectively treated with a drug called eculizamab, which is highly effective. It is a life-saving treatment; without it, the disease moves to a fatal conclusion.

Many more such drugs are being developed, and in Duchenne muscular dystrophy drugs have been identified and used for the technique called exon skipping, which appears to work only in specific mutations and by no means in all. But Dame Kay Davies and her colleagues in Oxford are working on a mechanism of utrophin uptake regulation, persuading utrophin to move along the muscle fibre membrane to replace the missing dystrophin. These drugs are being trialled in excellent treatment trials in London, Oxford and Newcastle, funded by the Medical Research Council, the Muscular Dystrophy Campaign and other organisations.

So what is the problem? The problem is that more and more such drugs are coming on stream but, because the number of patients affected by these rare diseases is comparatively small, the drugs are not likely to be commercially successful. The industry has been extremely helpful in making them available for trials, but this cannot go on indefinitely. The drugs that are likely to treat rare diseases affecting 100-plus people are called ultra-orphan drugs, whereas those affecting 1,000-plus people are called orphan drugs, and it is clear that they are going to present an increasing problem over the coming years.

The problem is that the cost-benefit analysis that has usually been employed by NICE in assessing the value of these drugs is not likely to be helpful or even appropriate in assessing their value in the case of rare diseases. However, we await the outcome of NICE’s consultation on what it calls value-based medicines, and we hope that this will be positive in relation to these drugs. The government initiative of creating a rare diseases advisory group answerable to NHS England has been helpful but, most particularly, the early access scheme, to which other speakers referred, is most welcome as being a very exciting development for the future.

As time goes by, though, in my opinion those initiatives are not in themselves going to be enough. As my noble friend Lady Masham said, we miss the advisory group on national specialist services, AGNSS for short, which had ring-fenced funding. At the end of the day, it is more than likely that ring-fenced funding will be needed for the management and treatment of these conditions with orphan and ultra-orphan drugs. I hope that the Government will agree that in their new structure a neuromuscular clinical reference group should be established for this purpose.

Human suffering is not something that can be measured in numerical terms. The needs of these patients and their families are paramount. Somehow or other, this problem is one with which this and future Governments are going to have to come to terms.