After ten years of preclinical work and nearly £30 million ($50 million) in funding, gene therapist Eric Alton was ready to get his clinical trial off the ground. Alton leads the UK’s Cystic Fibrosis Gene Therapy Consortium, a network of 80 scientists and clinicians from the Universities of Edinburgh and Oxford as well as Alton’s institution, Imperial College London, who have all worked together to develop a new experimental treatment for the rare genetic disease. But after so much time and effort, the consortium’s funding organization — the Cystic Fibrosis Trust — has found itself £6 million short and the trial has been put on hold.
“We’ve done five clinical trials before this showing that this can work in terms of the protein,” Alton told Nature Medicine. “That’s why it’s particularly frustrating to be put on hold now after we’ve been working on this for a decade.”
Cystic fibrosis is caused by a mutation in the CFTR gene, which encodes an ion channel that transports chlorine across the cell membrane, regulating components of sweat, mucus and digestive juices. A single copy of the functional CFTR gene can produce enough protein to be healthy, but two mutant copies block ion transport in epithelial cell lining the lungs and pancreas, causing them to fill with mucus and leading to breathing problems, lung infections and, often, early death.
Alton and his colleagues had hoped to repair the defective ion channel using gene therapy. To this end, they encoded the CFTR gene into fat globules that are then inhaled by cystic fibrosis patients, delivering the gene into lung cells. They had completed the first round of clinical testing to ensure that a single dose was safe. And they were looking forward to the next clinical phase, with the gene therapy administered once a month for an entire year to 120 patients. But then the funding tap ran dry.
Now, unless the £6 million can be raised, the trial will not begin. After years of tough economic times, the belts of individual and corporate donors seem to have tightened considerably and charities have been hit hard. “Sometimes it takes a while to feel the effects of reduced donations,” says Gemma Matthews, a spokesperson with the Cystic Fibrosis Trust in London. But the organization is pulling out all the stops to raise the money. “It’s crucial really that the trial happens so that we can answer that question of whether gene therapy is possible for cystic fibrosis,” Matthews says.
The sooner that can happen the better, says Alton. “The longer you’re off, the more likely your team will disintegrate,” he says. “We’re on borrowed time here.”
For more on the leading therapeutic approaches to treating cystic fibrosis, see our April news story: ‘Mutation-specific cystic fibrosis treatments on verge of approval’.
Image: user ImGz, Wikimedia Commons
