While affecting one in 2 000 people, rare diseases have been long neglected by national health authorities and the pharmaceutical industry. This has certainly been a drawback for the 30 million rare disease sufferers within the European Union. Now a network is being established between health facilities across Europe to unite resources and accelerate research into treatments against inherited neuromuscular diseases.
In the past the only options available to sufferers of such rare diseases have been acceptance, adjustment of lifestyle and learning to live with the physical pain and complications. The inadequate attention given to these diseases has led to the formation of associations by the patients and parents of younger patients, with the goal of raising the awareness of the public as well as those writing health policies.
In order to assist the development of curative treatments for neuromuscular diseases, a Europe-wide network of excellence in research is being set up. It is coordinated by Prof. Volker Straub (Institute of Human Genetics, University of Newcastle), together with the Professor of Neuromuscular Genetics, Kate Bushby (Director of the Muscle Centre), in Newcastle upon Tyne in the UK. Rare diseases have no medical centre dedicated to their research and the lack of experience and patients for clinical trials leave patients with very limited options in dealing with their disease. This network of excellence, called TREAT-NMD, should compensate the lack of research focused on these diseases. It marks the establishment of an infrastructure bringing scientists, clinicians and patient organisations together.
The absence of databases showing the numbers of patients with specific muscular diseases is a major problem being tackled by the network. Now there are databases throughout Europe collecting patient data, enabling patient enrolment for clinical trials which can lead to new treatments and therapies.
Many rare diseases have symptoms which appear at birth or during childhood. Although signs of rare neuromuscular diseases can become evident in children at any age, from babies to teenagers, most children will be diagnosed at the time when they begin school. It will only then be noticed that a child has trouble keeping up with the activities of the other school children. Advances in the last few years towards earlier detection have resulted in better treatments regarding the inevitable psychological consequences and physical difficulties.
A recent advance in diagnosis comes from the Institute of Human Genetics at the University of Newcastle. They have provided a better method for diagnosing two very rare forms of muscular dystrophy, both caused by abnormal collagen VI genes. In the past, patients have gone undetected under the traditional methods. This new and very practical form of diagnosis examines the collagen VI protein in cells from the skin.
It was 20 years ago that a gene was first discovered to be involved in muscular conditions. Since then it has been shown with animals that it is possible to replace faulty genes, regulate them or modify them to improve their functional ability. Around 80 per cent of the known rare diseases have genetic origins, resulting from one or several genes or chromosomal abnormalities.
There are not yet any cures for any of the genetic muscle diseases. There are, however, many new ideas in the pipeline, resulting from pre-clinical studies that are now reaching the clinical level. The road from the discovery of a new compound to its arrival on the market is a long one, lasting normally between 5 and 10 years. It is of course important that a safe and effective treatment be delivered. Trials on humans for new treatments have already begun after positive results from trials on animals.
The effects of research into these rare diseases include, besides the direct benefits for patients, an end to the isolation felt by sufferers and their families. Further benefits could eventually reach the wider population, as genetics increasingly becomes a new frontier for medical research.