Ireland left behind in disease research

Laura Finn, Irish Medical Times - March 18, 2010

Laura Finn reports that Ireland has potential as a centre of research for rare diseases, but we have been left behind in terms of diagnosis and treatment

Eighty per cent of all rare diseases in Ireland are genetic, delegates at a conference on rare diseases heard last month. The event, entitled ‘It’s Not That Rare to Have a Rare Disease’, drew attention to the fact that the figure for the number of patients classified as having a rare disease in Ireland is 140,000.

This number that has been derived from the estimation that no more than five out of every 10,000 people, or 3.5 per cent of the population, will have a rare disease.

These are defined as a condition affecting fewer than one in 2,000 patients in Europe.

However, there could possibly be an additional 200,000 individuals who unknowingly have such a condition. Between 6,000 and 7,000 rare diseases have been identified worldwide. Seventy-five per cent of rare diseases affect children, and 30 per cent of those die before reaching the age of five.

The Dublin conference was organised by the Genetic and Rare Disorder Organisation (GDRO); the Irish Platform for Patients Organisation, Science and Industry; and the Medical Research Charities Group. Researchers, industry representatives and patient organisations gathered to highlight the issue of rare diseases in Ireland and highlight the need for further scientific research into this area.

It was Avril Daly, GRDO Chairperson, who told the conference that 80 per cent of all rare diseases in Ireland are genetic – and this percentage is almost three times higher than that of the UK. As an island, Ireland is a genetic isolate, which accounts for the high rate of genetic disorders in the country. Cystic fibrosis (CF) is just one of the many genetic disorders that have a high prevalence in this country, with an estimated one in 19 people being a carrier of the CF gene.

Ireland has great potential as a centre for research of rare diseases, yet it appears we have been left behind the rest of Europe and the world in terms of diagnosis and treatment.Daly views the current system of codification and classification of rare diseases in Ireland as a ‘major issue’. A child in another European country could be receiving treatment for a rare disease that has been given a classification.

A child with the very same disorder in Ireland will not be able to receive any treatment if the disease has not been classified in this country.

This inequality is the reason behind the Organisation’s hope for a universal codification and classification system. This universal system would produce a central register that would enable an Irish patient to be given a diagnosis for a condition once it has been given a classification in any other part of the world, irrespective of whether it has been diagnosed previously in Ireland.

A ‘diagnostic odyssey’
Unfortunately, the current situation for diagnosis of a rare disease in Ireland is extremely bleak, said Daly; she described the process for obtaining a diagnosis as a ‘diagnostic odyssey’. A gruelling process can take up to ten years, which will likely consist of inappropriate interventions that could cause a great deal of physical and mental trauma to a patient.

Another obstacle for Irish patients is that if they do eventually receive a correct diagnosis for their condition, they face a difficult battle in getting access to the appropriate treatment. The estimated figure for rare disorders in Ireland may be 140,000, but the number of patients with one particular condition could be no more than a handful.

Patients who suffer from one of these rare conditions are hampered greatly in their need for treatment as the cost can often be prohibitively expensive. Also, access to medicinal products for rare diseases, known as ‘orphan’ medicines, can be inaccessible as pharmaceutical companies do not feel it to be financially viable to sell to such a small market.

However, the Irish Pharmaceutical Healthcare Association (IPHA) says over the last number of years, great progress has been made with the approval of several new medicines for rare diseases such as Pompe disease, myelodysplastic syndromes, enzyme deficiencies and rare cancers.

Latest figures, according to the IPHA, show that the research-based pharmaceutical industry is continuing that progress with 303 medicines in human clinical trials or awaiting approval. This compares to 133 medicines in development in 1989.

Since 1995, more than 160 orphan medicines have been approved to treat rare diseases, compared to 108 in the decade before and fewer than 10 in the 1970s.

Advances in science, such as a better understanding of molecular and genetic causes of disease, have given researchers new tools to explore rare diseases, which are often more complex than more common diseases.

Some examples of medicines in development for rare diseases include:

A monoclonal antibody for chronic sarcoidosis, an immune system disorder;
A medicine for Lennox-Gastaut syndrome, a severe form of epilepsy;
Gene therapy for CF, which is currently Ireland’s most common life-threatening inherited disease;
A medicine for epidermolysis bullosa, a group of inherited disorders where skin blisters develop in response to minor trauma;
A medicine for Friedreich’s ataxia, a genetic disorder.

Avril Daly, General Manager of Fighting Blindness, is also Chairperson of the Genetic and Rare Disease Organisation (GRDO). Find out more at www.grdo.ie