The median age of survival for people with cystic fibrosis (CF) was 22.6 years – a tremendous improvement from just a decade earlier when children with CF usually did not live to attend elementary school.
“During the 1970s, we began advising CF patients to eat high-fat, high-calorie diets and to take enzymes to aid in digestion,” says Dr. Yves Berthiaume, a clinical scientist who specializes in the lung epithelial cell physiology of CF at the University of Montreal. This recommendation significantly improved the nutrition of individuals with CF and helped to underscore the nascent promise of controlling the condition.
Control of the secondary effects of CF, such as life-threatening lung infections, had progressed, but what scientists knew about the disease was still limited. The location of the CF defective gene and the fundamental causes of CF pathophysiology were unknown.
“We knew that CF was a recessive condition, probably caused by the mutation of a single gene,” explains Dr. Berthiaume. “We just didn’t know which gene was responsible.”
Roughly half of all Canadians with CF can expect to live into their late 30s. Catapulted by discovery of the defective CF gene in 1989 by Lap-Chee Tsui and John R. Riordan of The Hospital for Sick Children in Toronto, a staggering amount of progress in the knowledge and treatment of CF is underway.
Researchers know precisely which body cells are affected by CF – a discovery of vital significance, since the development of effective drug or genetic therapies depends on knowing which cells to target for treatment.
Scientists are trying to find ways to correct the basic genetic defect – for example, by figuring out how to insert a healthy version of the CF gene into affected cells. And, they are discovering novel therapeutics that can boost the immune system to clear infections.
Treatment strategies have changed. Enzymes are taken routinely with food to help digest fats, and when people cannot ingest enough nutrients, feeding tubes have become easier to manage in a home setting.
Scientists will continue to look at gene therapy, particularly ways to deliver the healthy CF gene to cells without toxic effects, and drugs that are designed to target different CF gene mutations will become more specialized.
“Nutriceuticals also have a future in CF care,” predictsDr. Berthiaume. “These substances are aimed at helping the body and immune system fight CF more efficiently – with or without the aid of pharmaceuticals.”
According to Cathleen Morrison, CEO of the Canadian Cystic Fibrosis Foundation, research is the surest way to invest in a brighter future.