Cystic fibrosis drug a 'huge moment' for treatment of newborn babies 

Siblings Kara and Isaac Moss with their parents Debbie and Wayne Moss, who participated in a landmark study which supports use of a ground-breaking cystic fibrosis drug in infants from four weeks of age. Pictures: Patrick Bolger

A cystic fibrosis (CF) drug that targets the basic defect that causes the condition has been found to be safe and effective for newborn babies aged four weeks and above.

The findings, from new research involving RCSI University of Medicine and Health Sciences and Children's Health Ireland, have been described as "a huge moment" for cystic fibrosis.

Ireland has the highest incidence of CF — an inherited condition that affects the lungs and digestive system — in the world, with about 1,400 children and adults living with the disease and more than 30 new cases diagnosed every year.

Ivacaftor (Kalydeco), the first drug designed to treat the defect, was originally approved for adults and then sequentially over several years for older and younger children. 

Currently, it is approved for babies aged four months and older, however, this new research suggests it is safe and effective for babies as young as four weeks of age.

The study included the first baby in the world with CF to be diagnosed from birth and enrolled in this kind of trial.

Ivacaftor (Kalydeco) targets a genetic change seen in about 4% of people with CF worldwide, and about 10% in Ireland.

Paul McNally, associate professor of paediatrics at RCSI and consultant in respiratory medicine at CHI, said this was a "huge moment" for the condition and very important as "almost all children are diagnosed through newborn screening".

“Over the years ivacaftor, or Kalydeko, has been put through clinical trials in younger and younger children. Now, through this study, it has been shown to be safe and effective all the way down to four weeks of age,” Prof McNally said.

"The availability of a treatment that targets the underlying cause of the disease in newborns and can be started immediately at diagnosis will provide a huge sense of reassurance and hope for families.” 

Ivacaftor study 

Siblings Kara and Isaac Moss, who participated in a landmark study which supports use of a ground-breaking cystic fibrosis drug in infants from four weeks of age. 

Irish siblings Kara and Isaac Moss participated in the study through Children's Health Ireland.

Kara, aged five, was part of the early stages of the study that paved the way for ivacaftor to be approved for use in older infants, leading to the trial her younger brother took part in.

Isaac, aged two, was the first baby with CF in the world to be diagnosed from birth and enrolled on a trial of treatments.

Debbie Moss, Kara and Isaac's mother, said studies like the ones they took part in were important for children to "get the right treatments as early as possible".

“Both Kara and Isaac are doing really well and remarkably are not experiencing any of the typical symptoms of cystic fibrosis at the moment," she said.

"With the right medications, they can enjoy a healthy childhood and look forward to a brighter future.”