Hopes for cystic fibrosis drug kept alive by emergency cash

A revolutionary treatment to extend the lives of thousands of cystic fibrosis sufferers, which was threatened with the axe by the recession, is to go ahead after all, thanks to a last-minute reprieve.

A decade-long research programme, which could pave the way for a cure for Britain's most common hereditary disease, was in jeopardy because the economic downturn had caused a drop in public donations.

But a government grant of up to £4.1m to safeguard the research, combined with fundraising efforts of hundreds of individuals, means the clinical trials, part-funded by the Cystic Fibrosis Trust, will almost certainly go ahead early next year.

The "in principle" decision for the funding from the National Institute for Health Research, a grant-making arm of the NHS, was made after a nationwide plea from the trust earlier this year to plug a £6m shortfall.

Yet in a fresh blow to Britain's 9,000 cystic fibrosis patients, their day-to-day care by physiotherapists, nurses and other health specialists is under threat because of cuts to NHS services. This week the trust is publishing a "standards of care" document to set out the complex arrangements sufferers need to keep their condition under control.

Around 250 babies are born with the condition every year, and the majority of sufferers do not live beyond the age of 40. The condition – which occurs in children where both parents carry a faulty gene – is incurable but can be treated with oral antibiotics and physiotherapy in the early stages, followed by invasive treatment in more serious, advanced cases. Among those who suffer from the disease is Gordon Brown's four-year-old son, Fraser.

The £36m research programme was started 10 years ago by the Cystic Fibrosis Gene Therapy Consortium, which is based in Edinburgh, Oxford and London. The programme is described by scientists as a "once in a lifetime opportunity" to find the closest thing to a cure.

What the scientists do is swap the faulty cystic fibrosis gene with a copy of a healthy gene, which is then replicated in a patient's lungs. Effective gene therapy would help to limit the development of chronic lung damage, which is the main cause of death. The next stage of clinical trials, if successful, would lead to development of a drug.

By the end of October, the trust's appeal had raised £1.1m from individual pledges and donations. Tamsyn Clark, director of marketing, said yesterday: "The CF Trust has heard that the gene therapy clinical trial has the best chance of going ahead. This is very encouraging news."

But the trust insisted that its fundraising efforts would continue until the next stage of the research was secured.

There are also concerns that the daily management of cystic fibrosis patients is suffering because of cuts to NHS services. Earlier this year the trust launched a campaign after it emerged that some specialist CF nurses were being forced to cover other work; it was also revealed that physiotherapy posts were being cut or frozen.

Jo Osmond, clinical director of the Cystic Fibrosis Trust, said last night: "We are already aware, through our Don't Turn Back the Clock campaign that the standards of CF care that we work hard to define and disseminate are being squeezed.

"It is neither sustainable nor fair, either to patients or practitioners, to allow these services to be held together by the dedication of specialist clinicians. Not only is this masking the current shortfalls, but any interruption in the provision of specialist CF care, even for a short period of time, has consequences. For a person with CF, the impact on their future health can be devastating."

A hereditary condition

* Cystic fibrosis affects more than 9,000 people in the UK.

* More than 2 million people carry the faulty gene that causes it – around 1 in 30 of the population.

* If two carriers have a child, the chances of CF are one in four.

* The condition affects the lungs and other organs, clogging them with thick mucus and making it hard to breathe and digest food.

* Each week, five babies are born with it; each week, two sufferers die.

* Only half of those with the condition are likely to live past 40.

Case study

Kirstie Tancock, 22

Honiton, Devon

Kirstie was, like other cystic fibrosis sufferers, affected by the disease from a young age. But despite being in and out of hospital, she passed her GCSEs and studied performing arts and arts management at Exeter College before running her own business as a qualified fitness pole-dancing instructor.

In 2008, she met her future husband, Stuart. In the last two years her illness worsened, and she began contracting repeated infections, forcing her to take intravenous antibiotics. She was unable to leave the house without oxygen and had to use a wheelchair. She planned to marry Stuart in Cyprus last December, but was too ill.

In March this year, when she was told she probably had six months to live, Kirstie was placed on a waiting list for a lung transplant. Despite knowing she would probably die at a young age, she says: "I didn't think I would be 21 years old and on the transplant list."

The transplant took place in July, and five days later she and Stuart married. Kirstie wrote on her blog in September: "I want to do everything and do it now. I have a sweet taste of life and I am gorging."

She says of the gene therapy trials: "I don't want anyone to have to go through what I have been through. It would just be amazing if something could prevent other people going through what I have."