Largest gene therapy trial for cystic fibrosis begins

March 16, 2012
The trial will see patients 'breathe in' the gene therapy using a nebulizer.

(Medical Xpress) -- British scientists are to carry out the largest trial anywhere in the world of a gene therapy for cystic fibrosis.

A consortium of researchers from Oxford University, Imperial College London and the University of Edinburgh will start enrolling patients on the trial this month.

The UK Cystic Fibrosis Gene Therapy Consortium hopes that the study will show for the first time whether the gene therapy they have developed can improve the health of patients. The phase two clinical trial will involve 130 cystic using an to breathe in a working copy of the cystic fibrosis gene once a month for a year.

The trial will go ahead thanks to £3 million in funding from the Medical Research Council (MRC) and the National Institute for Health Research (NIHR) that is announced today.

Additional laboratory studies to develop a potentially more efficient delivery method for the gene therapy will receive a further £1.2 million in support from the MRC.

"No one has ever done a gene therapy study like this in cystic fibrosis before," said Dr. Deborah Gill of the Nuffield Department of Clinical Laboratory Sciences at Oxford University. "It’s a worldwide first in terms of the length of the study, the number of patients involved and the number of doses of gene therapy. By giving the therapy over a whole year, we will have the best chance yet of seeing an improvement in patients."

Professor Eric Alton, the coordinator for the consortium from Imperial College London, said: 'Conventional treatments have extended the life expectancy for people with cystic fibrosis. We’re hoping that this therapy will achieve a step change in the treatment of cystic fibrosis that focuses on the basic defect rather than just addressing the symptoms.

"This trial will assess if giving gene therapy repeatedly for a year will lead to the patients' lungs getting better. Eventually we hope gene therapy will push cystic fibrosis patients towards a normal life expectancy and improve their quality of life significantly."

Cystic fibrosis is an inherited disease that affects around 9,500 people in the UK. There is currently no cure and the only available treatments rely on alleviating the symptoms, not treating the underlying cause. The average life expectancy for cystic fibrosis patients is only 35 years.

The disease is caused by a single faulty gene that leads to thick, sticky mucus to build up in the lungs and digestive system.

The researchers in the UK Cystic Fibrosis Gene Therapy Consortium have developed a successful method for delivering a working copy of the defective gene directly into the lungs of patients.

The gene is administered via a nebulizer – much like inhalers used in asthma. Patients simply inhale a fine mist of fat globules which carry the DNA for the gene wrapped up inside.

The researchers have previously shown in smaller-scale that their nebulizer approach can get a working copy of the cystic fibrosis gene into the cells of the lung, and that the gene continues to work for a period of weeks and months.

The new clinical trial will assess whether the gene therapy can provide measurable clinical benefits for people with cystic fibrosis. That is: whether it can actually improve people’s lung function, and reduce the amount of mucus, inflammation and infection seen in patients.

Patients will be seen at the Royal Brompton Hospital, London, and the Western General Hospital and the Royal Hospital for Sick Children, Edinburgh.

The second lab-based study, with a further £1.2 million in funding from the MRC, will investigate a potentially more efficient delivery method for the gene therapy. The aim is to use a modified virus to carry the replacement gene into the lungs, which could lead to an even more effective treatment in the future.

Dr. Gill said: "The new virus delivery approach has never been tried before but it could be more efficient. It is specifically designed to deliver the gene therapy to the lungs, but it will take several more years of development before it gets to the point of human trials."

The consortium’s research, which has been supported by the Cystic Fibrosis Trust for a decade, had faced an uncertain future due a funding shortfall. The new funding from the MRC and NIHR will ensure the next stage of the research can continue as planned.

Professor Eric Alton of Imperial College London said: "With funding for this key part of the consortium's program secure, we will begin preparations for the trial immediately."

The outcome of the phase two trial will be known in spring 2014 and regular progress reports will be posted on the UK Cystic Fibrosis Gene Therapy ’s website.

Dr. Gill said: "A lot of patients in this country have either been directly involved in trials or in fundraising to support the research. That this new trial is going ahead is a really great result for everyone. It could find out if has a chance of working for all ."

Explore further: Severity of cystic fibrosis may be determined by presence of newly-identified modifier genes

Related Stories

Recommended for you

We've all got a blind spot, but it can be shrunk

August 31, 2015

You've probably never noticed, but the human eye includes an unavoidable blind spot. That's because the optic nerve that sends visual signals to the brain must pass through the retina, which creates a hole in that light-sensitive ...

Biologists identify mechanisms of embryonic wound repair

August 31, 2015

It's like something out of a science-fiction movie - time-lapse photography showing how wounds in embryos of fruit flies heal themselves. The images are not only real; they shed light on ways to improve wound recovery in ...

New 'Tissue Velcro' could help repair damaged hearts

August 28, 2015

Engineers at the University of Toronto just made assembling functional heart tissue as easy as fastening your shoes. The team has created a biocompatible scaffold that allows sheets of beating heart cells to snap together ...

Fertilization discovery: Do sperm wield tiny harpoons?

August 26, 2015

Could the sperm harpoon the egg to facilitate fertilization? That's the intriguing possibility raised by the University of Virginia School of Medicine's discovery that a protein within the head of the sperm forms spiky filaments, ...

Research identifies protein that regulates body clock

August 26, 2015

New research into circadian rhythms by researchers at the University of Toronto Mississauga shows that the GRK2 protein plays a major role in regulating the body's internal clock and points the way to remedies for jet lag ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.