Treating cystic fibrosis before birth could prevent damage to organs, animal study shows

Researchers are reporting in animal studies that using a certain drug to target cystic fibrosis (CF) in the womb could prevent damage to organs, including the pancreas and lungs. CF is a life-threatening, multiorgan genetic disorder that causes serious damage to the lungs.

Researchers have known for some time that a drug known by the generic name ivacaftor can reduce lung problems in a people with a rare form of CF. The drug works by restoring the function of a protein called CFTR, which controls or channels the movement in and out of cells of such materials as salt, bicarbonate, and water—all of which are important to normal lung function. That protein is defective in CF. Treatment with the drug ivacaftor usually begins after the first year of life, but by that time the disorder has already caused organ damage in most patients.

In the new study, the researchers showed in animal models of CF that giving the drug in utero (in the womb) and then continuing treatment of the offspring after birth prevented male infertility, pancreas problems, and lung disease. When the drug was discontinued, organ damage resumed, they say.  The study suggests that early administration of the drug could be beneficial for certain patients with CF. But more studies are needed, including in humans, they say.

The study, partly funded by NHLBI, appears in Science Translational Medicine, a publication of the American Association for the Advancement of Science.