A brighter future?

Five babies are born with cystic fibrosis every week. Until now the outlook for these children was bleak - but gene therapy could soon yield results. But securing the long-term investment needed is proving difficult, reports Louise Brownlee

On 13 April, as London's streets submit to the sound of pounding running shoes, a tiny island off the coast of Cornwall will be hosting its own mini marathon in an annual fund-raising effort for Cystic Fibrosis research.Dubbed the "world's smallest marathon" by its organisers, the race on Tresco, the Isles of Scilly will see competitors run a figure eight to complete the 26.2 mile race. And at the end of a week of fundraising and campaigning by the Cystic Fibrosis Trust, it is hoped that events around the UK will have raised the profile of a disease which kills three young people every week.

Cystic Fibrosis is an inherited genetic disorder which affects the vital organs, particularly the lungs and pancreas. A protein called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR), which moves salt and water in and out of the cells that line the lungs and digestive system, does not function properly, causing too much salt and too little water with the result that sticky mucus clogs the lungs and digestive system, affecting breathing and food digestion. For sufferers, continual treatment is needed using regular medication and exercise or physiotherapy to clear their lungs. And because the digestive system cannot properly process food, sufferers must maintain a healthy diet to ensure they do not become malnourished.

The gene pool for the condition is also surprisingly large. According to the trust, an estimated one in 25 people in the UK carry the defective gene and five babies are born every week with the disorder. Yet most carriers remain unaware that they have the gene until it appears in their child or the child of a relative.

Should both parents be carriers there is a one in four chance that a child will be born with Cystic Fibrosis and a two in four chance that it will be a carrier without having the disease. On diagnosis, despite advances in treatment, the outlook is bleak. The majority of sufferers still do not reach adulthood; of the 7,500 Cystic Fibrosis sufferers in the UK today, 6,000 are under the age of 25.Former MP Rosie Barnes, the trust's chief executive, says that greater screening for Cystic Fibrosis would enable couples to make informed decisions with regard to family planning. "Newborn screening is about to be introduced nationwide and the national screening committee are considering antenatal screening, which we would support from the basis of informed choice," she says. "But where the medical knowledge could be made available before a pregnancy is underway it is very much less painful for a couple."

Barnes believes it would not be difficult for all girls to be given a carrier test. "If they're not a carrier then they can forget about it, because it doesn't matter whether their partner or subsequent partners are carriers or not. They can never give birth to a child with Cystic Fibrosis so it's a risk that's ruled out for them. However for the one in 25, they might want to consider asking their partner if he would like to be tested so that they can make an informed decision." Yet their future does not have to be childless. "They can decide to go ahead and take the chance, or they can have antenatal screening. But if they don't want to go down either of those routes they can opt to have the baby by pre-implantation diagnosis, which is exactly the same as having a baby by IVF - except there is one extra process. Each embryo is tested for Cystic Fibrosis and only embryos which are free of Cystic Fibrosis are implanted."

Yet while greater screening would be desirable, it is the search for a cure which is now the major focus for the trust. "Research and standards of care within hospitals have all combined to make Cystic Fibrosis more treatable today and to give people a longer lifespan," says trust spokesman Daniel Procter. While in 1964 a sufferer was not expected to live beyond 10 years of age, life expectancy today is 31. The trust now hopes that by bringing together scientists who were previously working independently on gene research, it will be possible to take gene research, it will be possible to take gene therapy to stage three clinical trials within five years. "But it's going to cost £15 million to get it there," he says.

So far the trust has managed to put £3.5 million in the kitty but Barnes believes that part of the commitment for funding ongoing research should come from government. "We've never asked for help before," she says. "And I also felt that for the government to have a gene therapy success story, it would help pave the way for other gene therapies for other conditions."Barnes says she presented the trust's case around 18 months ago but is still waiting for an answer. After writing to the Prime Minister, she was referred to Professor Sir John Pattison, Head of Genetics at the Department of Health."He invited me and one of my scientific colleagues to a meeting where he heard the case. He seemed very interested and very supportive." The case was then passed to Lord Hunt. "I had a very cordial meeting with him in the company of Professor Pattison and I felt we were able to make a very good case for the need for help with funding," she says. "He seemed supportive and interested but I've not heard another word. I'm pleased that they've been interested to hear about what we're doing but disappointed that we've had no funding."

Because the trust has ploughed money into research and clinical care over three decades, Barnes believes that it is time for the government to help out. "Over the years the Cystic Fibrosis community has been very self-sufficient as a result of endless fundraising events, coffee mornings, jumble sales and the like by grannies and aunties the length and breadth of the country," she says. "Most of the research for Cystic Fibrosis over the last 30 years has been funded with a huge injection of cash from the Cystic Fibrosis Trust.

"We've also supported clinical care because the NHS doesn't do a good enough job for Cystic Fibrosis. So most years we put the best part of £1million back into the NHS to ensure it does its job for Cystic Fibrosis better."And it is support such as that for clinical care which could suffer if funds are not found. "In order to take on additional scientists of worldwide calibre on a four or five-year contract we need to know that continuity of funding is in place," says Barnes.

The research itself is expected to give results in a matter of a few years. Over 30 years, life expectancy for Cystic Fibrosis sufferers has been enormously improved. By focusing on the lungs, it is hoped this can be taken even further. "About 90 per cent of people with CF die with lung disease," says Daniel Procter. "So what we're trying to do is take the life-threatening aspect out of CF by curing the lung disease side of things." To pursue this, the trust created a consortium of scientists which now focuses on gene research. "They've identified the defective gene and they have actually cured the CF gene in a test tube," says Procter, "but they haven't obviously tried it in the human body which is a much more tricky and intricate place. In the human body we don't know if it would be a cure or a treatment, but we know it will work if we can get it there."