Health: Rare Diseases

Lord Walton of Detchant Excerpts

Tuesday 3rd March 2015 Lords Chamber

[Lord Walton of Detchant (CB)]

My Lords, last week I had the privilege of attending a symposium, or reception, for what was called Rare Disease Day, sponsored by the International Rare Diseases Research Consortium and various other bodies. The Minister made a useful and helpful contribution, as indeed did a member of the staff of NHS England.

As the noble Lord, Lord Turnberg, to whom I am very grateful for introducing this debate, said, several thousand rare diseases have now been identified. These are of varying degrees in that some are fatal, some are progressive and some very much less so, but there is clear evidence that new forms of treatment are beginning to emerge for many of them, not least for the many inherited rare diseases, many of which are due to single genes. The gene has been located, the missing or abnormal gene product has been isolated, and effective drugs are now coming on stream to overcome the problems. The drugs for the very rare conditions are called ultra-orphan drugs, whereas drugs for conditions affecting 1,000 or more patients are called orphan drugs. It is clear that, although some of them are life-saving, others have produced an improvement but not, as yet, a cure. I pay tribute to the industry for the excellent work that has been carried out to develop these drugs, which is continuing to expand at a very important and interesting rate. I have often said that today’s discovery in basic medical science brings tomorrow’s practical development in patient care, and there is no more obvious example than the case of many rare diseases.

Many of the drugs are extremely costly, because the benefit to patients is relatively small and the number of patients who benefit is, again, very small—hence in many instances they are not commercially viable. Quite a few of these drugs have been licensed. Examples come particularly from the Cancer Drugs Fund, but that fund of £360 million is now running out of money and under threat of being closed. When, a couple of months ago, I said to the Government how important it was that they should create a rare disease drugs fund, this was not looked upon with any great favour because the Cancer Drugs Fund is not now managing to handle the needs of many patients with cancer.

There are excellent examples of drugs for rare diseases. A drug called eculizumab is a cure for haemolytic uraemic syndrome, but it has to be continued almost indefinitely, at a cost of £100,000 per patient per year. As the noble Lord, Lord Turnberg, mentioned, for other conditions such as tuberous sclerosis, which causes brain tumours, and the rare condition called lysosomal acid lipase deficiency, which causes severe liver disease, drugs are now available. But they are not at the moment becoming prescribable under the NHS.

My own field of research is muscular dystrophy, and I declare an interest as life president of Muscular Dystrophy UK. About 10% to 15% of cases of the serious progressive paralysing disease Duchenne muscular dystrophy are due to a nonsense mutation where a single letter of the DNA places a stop signal in the middle of a gene. The drug encourages cells to ignore this, and the signal therefore allows the dystrophin protein to be restored in the muscle, which produces clinical improvement. Clinical trials in Newcastle have shown significant improvement in the walking capacity of boys receiving the drug. A new generation of drugs called exon-skipping drugs are being developed that produce a molecular patch over deletions in the gene. Clinical trials were very effective in Newcastle and the results were helpful, but the drug, although licensed, is not currently prescribable under the NHS because it is going through what is called a draft clinical commissioning policy. That means that these boys, whose walking was improving, are now finding that they are again deteriorating because they are no longer in a position to receive the drug.

As the noble Lord, Lord Turnberg, made clear, the bodies in the NHS are extremely complex. NICE, the National Institute for Health and Care Excellence, has a specialised technology assessment, a single technology assessment and a multiple technology assessment. There is also specialised commissioning under NHS England and a Rare Diseases Advisory Group advising NHS England. As yet, I am finding it extremely difficult to find out what that Rare Diseases Advisory Group is doing and I cannot get hold of any of its reports. This is an extremely complex problem because the cost of these drugs will be huge. Patients’ charities and patient groups are small but are collectively becoming increasingly vocal and concerned about the problem of finding the appropriate treatment for these diseases. I have said that the patients are relatively few but, collectively, they are huge in numerical terms, and it is not possible in my opinion to assess human suffering in purely numerical terms. We need from the Government greater clarity on how the drugs for these rare diseases can be produced.

I have to express serious concern for the future. The next Government will be faced with a huge dilemma because drugs are coming on stream at such a rate that it is perfectly clear that the present mechanisms available in the NHS will not be able to fund the treatment necessary for these diseases. I wonder whether it is not time, as the noble Lord, Lord Turnberg, said, to have a major review of the funding issue. I would love to see a mechanism whereby the Association of Medical Research Charities, the Specialised Healthcare Alliance and other bodies in this field might embark on a massive fundraising programme to support the availability of these drugs.

If only we could find a donor like Bill Gates, who has given so much to the management of malaria. I was even thinking of the second wealthiest person in the United States, Christy Walton, the widow of John Walton—no relation, I am sad to say—who was at Walmart. Can we not find someone to take on board the funding of the drugs—a very major effort? It might temporarily reduce the money available for research, but the important thing is that the research will not be translated into treatment unless we have funding for the treatments that result from that research. A major new initiative along those lines will be needed.