Local researchers try to find treatments for a deadly genetic disease
By Rikki Laser
Two independent researchers at the University of Iowa have identified different treatments for a powerfully chronic genetic illness: cystic fibrosis.
Cystic fibrosis is a prevalent recessive genetic disorder that interferes with multiple organ systems, said graduate research assistant Ashley Cooney. Among other things, the disease can affect the pancreas, liver, and, most notably, the lungs, which is usually the biggest issue.
“Most of the life-limiting problems are a result of chronic lung infections and inflammation and problems with clearance of mucus from the airways,” wrote UI Professor Paul McCray, the Carver Chair in Pulmonary Research, in an email.
Current treatments for cystic fibrosis are costly, and most only treat the symptoms rather than the disease itself.
People with this disorder also may need vitamins or nutritional supplements and pancreatic enzymes to help with the pancreas issues and to assist in growth, McCray said.
All that medication is extremely costly — he cited a 2011 study that said health-care costs for cystic fibrosis average around $29,000 annually, not including prescriptions, which can cost up to $20,000 more. Patients may also develop lung disease around once a year, and the 10- to 14-day hospitalization and treatment can cost a fortune.
In the last five years, these numbers have gone up, McCray said. Some of the most current drug therapies — each of which treats a different mutation in the disease — cost around $300,000 every year.
With gene therapy, however, a child might only need one treatment to be cured for a lifetime.
With the help of their labs, Cooney and Postdotoral Research Scholar Ben Steines each conducted experiments with gene therapy.
In both studies, researchers used infected pigs’ lungs with a virus that would replace the gene defect that causes cystic fibrosis.
“One of the greatest features of gene therapy is that it has the potential to cure all cystic-fibrosis mutations,” Cooney said.
She said that instead of fixing a small mutation — which can be different in every person — gene-therapy drugs replace the entire gene.
Although gene therapy has been practiced for a while, Cooney said, cystic-fibrosis research for it couldn’t happen until recently as there were no models — rats and mice, two very common lab animals, can’t sneeze and don’t have the same lung infections as humans do. In 2008, however, a cystic-fibrosis pig model was developed, the same model Steines and Cooney worked with.
The treatments, which worked very well in the short run, will not be ready for many years — the researchers said they are still asking many questions.
“We don’t know if it will work in vivo [in humans],” Steines said. “The longevity of the effect is still unknown, whether or not we’d have to read minister is an unknown and which administration would be best is unknown.”
As the treatment is only known to work for a short period of time, researchers said they must see if the disease continues to improve in comparison to a control.
“In the very, very, very distant future, it could potentially lead to a one-shot curative treatment for cystic fibrosis,” Steines said.