Patient groups push rare disease research

Derbhile Dromey writes that some patient-led organisations, such as Duchenne Ireland, are stimulating research into medical conditions.
Patient-led organisations are playing a powerful role in stimulating research into rare diseases that would not otherwise attract funding. Organisations representing people with Duchenne muscular dystrophy (DMD), for example, which affects 160 families in Ireland, are stimulating significant research into the condition. Duchenne Ireland was set up by the parents of boys with DMD. Though only in its infancy, it negotiated a deal through UK organisation Action Duchenne to self-register with UK registries that select subjects for clinical trials. It also secured an agreement from the Tánaiste to facilitate a debate about DMD in the Dáil — a step towards permanent Government funding.

Duchenne Ireland gives an international focus to its research efforts. It has created a €200,000 grant, entirely through its own resources, which it has promoted through the research network Treat Neuro-Muscular Disease (Treat-NMD). “We wanted to move things forward,” said John Gorman of Duchenne Ireland (DI). “We don’t want an effort where it’s research for research’s sake. A lot of research in Ireland is university-led and may not be as translational as we’d like. We wanted to concentrate directly on research, because we knew that without that push, nothing was going to happen.”
h4. International researchers
The grant call is being peer-reviewed and DI has set up a research committee of international researchers. “We’re looking at work where questions linked to clinical trials will be answered. The key was to make sure that it was as professional as possible. We’re not scientific people, but we want to be facilitators. Everyone agrees that there may not a cure or a therapy that will give function back to the boys, but things can be done on a step-by-step basis that can improve their quality of life. The research has to be applicable to this generation.”
Muscular Dystrophy Ireland (MDI), has raised almost €100,000 to fund two research projects into DMD, one at the University of Oxford and the other at UCC.
The UCC project is at the pre-trial stage and aims to examine the psychological effects of inflammation in the patient’s body. It is a two-year project being carried out by Dr Deniz Yilmazer-Hanke, a specialist in neurology/neurobiology. She is hopeful that close contact with clinical colleagues and with MDI will speed up the process of instigating a clinical trial.
“There’s some indication from other disorders that the psychological stage of the patient has an impact on inflammation,” said Dr Yilmazer-Hanke. “The inflammation in the body is interacting with the brain. This causes a deterioration of the patient’s situation. Depression is seen as a reactive phenomenon, but nobody has really looked at how the biological parameters of the disease correlate with emotional status. This research aims to provide relief and reduce suffering. It aims to increase the life expectancy and quality of life of patients. If this can be achieved, it may give them a longer time, until a cure or partial cure is developed.”
Patient-led organisations need the support of a larger body to represent their interests. Duchenne Ireland and MDI are members of the Medical Research Charities Group (MRCG), an umbrella group for its 29 members. It runs a joint research programme with the Health Research Board (HRB) and has received €1 million from the Department of Health to fund this initiative. The charity raises 50 per cent of the funds and the HRB matches this amount. This initiative is now on its third call and has funded 44 projects to date.
Because of the international nature of Duchenne Ireland’s work, John Gorman feels it is difficult for the organisation to derive the full benefit of its membership. Only 10 per cent of the MRCG’s budget is allocated to international research and this must be spread among all the organisations. “That’s minimal compared to what we want to put in ourselves,” he said. “Their heart’s in the right place, but they don’t have the Government funding that they should. They must prove that investment is going into Irish research.”
h4. Lack of understanding
Denise Cremins of the MRCG agrees that gathering funds can be difficult for charities due to a lack of public understanding of medical research. “Many don’t see the long-term investment that’s necessary,” she says. “It can be very easy to give to a specific, tangible cause, whereas research is more of a contract. Funders can find it difficult to grasp the long-term aspect.”
Yet recent MRCG-compiled research shows that patient-led organisations expect to spend €36.6 million on research projects during between 2008-2010. This contrasts with the €23 million spent from 2005-2007. The research also shows a fairly even split between clinical and translational research. Above all, it found that patient-led organisations push for research that would not otherwise be done given Ireland’s small population — particularly in the area of rare diseases.
For Dr Yilmazer-Hanke, the personal investment that patient organisations have in the outcome gives patient-led research its power. “The involvement is more personal. There’s a diversity in funding income. A more direct relationship is developed with the organisation and families, so the researcher can see the direct outcomes of the research.”