‘Groundbreaking’: Cystic fibrosis drug is safe and effective in newborns, new research shows

Ivacaftor - sold under trade name Kalydeko - previously available to babies aged four months or older

A “groundbreaking” drug which targets the underlying cause of cystic fibrosis has been shown to be safe and effective in newborns aged four weeks and above.

Until now, Ivacaftor - sold under the trade name Kalydeko - has been available to those aged four months or older.

Ivacaftor is the first drug designed to treat the underlying cause of cystic fibrosis and was originally approved for adults before subsequently being extended to younger age groups.

Ireland has the highest incidence of the inherited disease in the world due to its high prevalence of Celtic genes which are more susceptible to mutations that cause the progressive disease.


The new research carried out by RCSI University of Medicine and Health Sciences and Children’s Health Ireland has been described as a “huge moment” for the condition.

Co-author of the study and Associate Professor of Paediatrics at RCSI and Consultant in Respiratory Medicine at CHI Paul McNally described it as a “huge moment in cystic fibrosis” as it means treatment can be started immediately after diagnosis, once it is approved by the European Medicines Agency.

Though it is known that drugs like Kalydeko improve cystic fibrosis, the “big question” is if they slow down or prevent decline when started earlier in life, he said.

A longer-term study which is tracking the impact and efficacy of earlier intervention among 550 children from Ireland and the UK has recently begun.

However, some early findings in children are promising including a lack of respiratory symptoms and restoration of pancreatic function.

“There’s a lot of stuff that we don’t understand but what we do know I suppose is these drugs hold really amazing promise and what we need is more research,” he said.

With new effective treatments, Prof McNally said the CF adult population across the world is constantly climbing.

“We’re hopefully looking at future generations of children who will have much, much milder disease than previous generations because they started on drugs much earlier,” he said.

About 1,400 children and adults in Ireland live with the condition and more than 30 new cases are diagnosed each year, most commonly at about four weeks of age through the newborn screening programme.

Two-year-old Isaac Moss from Ashbourne, Co Meath was the first baby in the world to be diagnosed with cystic fibrosis from birth through the programme, after which he was enrolled directly onto the trial. His five-year-old sister Kara was part of an earlier phase of the study that paved the approval of the drug in older infants and led to the latest trial.

Their mother Debbie said Kara’s diagnosis through screening was a “huge shock” at the time, and although her husband Wayne has a cousin with cystic fibrosis, none of their nieces or nephews had it.

“Initially, we were devastated, we didn’t know much about CF so we didn’t know what it meant for Kara and what it meant for her life,” she said adding that Kara’s diagnosis meant a one in four risk of their second child having it.

However, Kara had enrolled on a trial of Kalydeko - which is taken twice a day - at nine months of age.

“Because of our experience with Kara and because she was doing so well we were happy to have a second child knowing that the child could be affected.

“We were hopeful that it would be just as successful as it was for Kara and thankfully it has been,” she said.

Because Kara and Isaac have started at such a young age, “they’re the same as any other child,” she said.

“We feel lucky that they have the gene types that respond well to these particular drugs and it gives a lot of hope for the kids’ lives,” she said.

Read More