Fixing cystic fibrosis patients before Arrival Can safeguard organs


A research in ferrets signals an early onset with a medication treatment may protect pancreases and lungs

person with cystic fibrosis

WHOLE BODY HELP  Children with cystic fibrosis can have lung disease, neglected pancreases and fertility issues. Research in ferrets indicates that treating patients with a drug in the womb may shield against those issues.

A drug that treats a rare type of cystic fibrosis may have better results when given before birth, a study in ferrets suggests.

The drug, known by the generic title ivacaftor, can restore the function of a faulty version of the CFTR protein, known as CFTRG551D. The normal CFTR protein controls the flow of atoms in cells that make mucus, sweat, saliva, tears and digestive enzymes. Individuals that are lacking the CFTR gene and its protein, or have 2 copies of a damaged version of the gene, develop the lung disease cystic fibrosis, as well as diabetes, obesity, digestive difficulties and male infertility.

Ivacaftor can decrease lung problems in patients with an G551D protein flaw, with treatment generally starting when a patient is a year old. But if the outcomes of the new animal study carry over to people, an even earlier start date could prove more successful in preventing damage to multiple organs.

Researchers employed ferret embryos with two copies of this Alpha 551D edition of this CFTR gene. Giving the drug to moms whereas the ferrets were in the womb and then continuing treatment of the babies after arrival prevented male infertility, pancreas issues and lung disease at the infant ferrets, called kits, researchers report March 27 in Science Translational Medicine. The drug has to be used continuously to reduce organ damage — if the drug was discontinuedthe kits’ pancreases started to neglect and lung disorder set in.

Cystic fibrosis affects roughly 30,000 men and women in the United States and 70,000 worldwide. But just up to 5 percent of patients have the G551D defect.

Other researchers are examining combinations of three medications, including ivacaftor, targeted at helping the roughly 90 percent of pancreatic fibrosis patients suffering from another genetic mutation which leads to that the CFTR protein to lack an amino acid (SN: 11/24/18, p. 11). Those medication combos, if proven successful, might also work if administered early, cystic fibrosis researcher Thomas Ferkol of Washington University School of Medicine at St. Louis writes in a comment published with the study.

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