Gene Therapy Could Help Some Cystic Fibrosis Patients

Cystic fibrosis is a genetically heritable disease that people are born with. There is no cure. However, there is now some evidence that gene therapy can work in cystic fibrosis patients. This new form of therapy could be very beneficial for individuals who have the disease.

Cystic fibrosis is a genetic disease. People who have it inherited two copies of the defective cystic fibrosis gene. They received one copy from each of their parents. Each parent was a carrier of the defective cystic fibrosis gene, but did not have the disease themselves.

When two people who are carriers of the defective cystic fibrosis gene have a child, there is a chance that the child will inherit that gene. This means there is a 25% chance that the child will have cystic fibrosis. In other words, there is a 1 in 4 chance that the child will receive the defective cystic fibrosis gene from her mother and also from her father.

There is a 50% chance that child will receive only one defective copy of the cystic fibrosis gene and will be a carrier. This child won’t have the disease, but could potentially pass the defective gene onto his children. There is also a 25% chance that the child won’t receive any of the defective genes from her parents. This child won’t have cystic fibrosis, and cannot possibly pass a defective cystic fibrosis gene onto her children.

About 30,000 people are living with cystic fibrosis in the United States. Around 1,000 new cases of cystic fibrosis are diagnosed each year. The majority of those cases, more than 75%, are in people who are diagnosed with cystic fibrosis before the age of 2. Many people who have cystic fibrosis die at an early age.

A team of scientists at the University of Oxford designed a sequence of genetic instructions for a trial study. The purpose was to see if the gene therapy helped improve the lung function of people who had cystic fibrosis. The gene therapy was one that could be inhaled.

The trial study involved 116 participants, 62 of whom received at least 9 monthly doses of the therapy. A control group of 54 people inhaled a saline solution. Lung function of each participant was checked by monitoring changes in the volume of air each participant could force out of their lungs in one second.

At the end of 12 months, the participants who received the gene therapy had, on average, 3.7 % better lung function than those who received a placebo. This is a good starting point. It could mean the difference between needing a lung transplant at the age of 60 instead of the age of 40.

Image by Hey Paul Studios on Flickr.

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