Cystic fibrosis treatment drug found to be safe and effective for newborns

A treatment targeting the fundamental defect that causes cystic fibrosis is safe and effective in newborns aged four weeks and older, a study involving the RCSI School of Medicine and Health and the Irish College of Child Health has shown. A new study has revealed this.

The discovery has been described as a “huge moment” for cystic fibrosis by one of the lead researchers. The study included the world's first infants diagnosed with cystic fibrosis from birth and directly enrolled in a trial of this kind.

This drug, ivacaftor (Kalydeco), is the first drug designed to treat the fundamental defect in cystic fibrosis. It was initially approved for adults and then progressively for older and younger children over several years. Currently, it is approved for infants 4 months and older, but this new study suggests it is safe and effective for infants as young as 4 weeks.

Cystic fibrosis experts predict that the earlier treatment is started, the more likely it is to slow or stop the progression of the condition in children, in a study led by RCSI and Children's Health Ireland. It has been the focus of several international studies. The results of this study could pave the way for eligible newborns to begin drug treatment at the time of diagnosis, usually at newborn screening, rather than waiting until they are four months old.

“This is a huge moment for cystic fibrosis,” said Paul McNally, RCSI Associate Professor of Pediatrics and CHI Respiratory Medicine Consultant. McNally is one of the authors of a new study published in the Journal of Cystic Fibrosis.

For many years, ivacaftor (also known as Kalydeco) has been in clinical trials in younger children. This study proves that it is safe and effective up to 4 weeks after birth. This is an important development because nearly all children are diagnosed through newborn screening during this time. The availability of treatments that target the underlying cause of a newborn's illness and that can be started soon after diagnosis would provide families with great peace of mind and hope. ”

Paul McNally, Associate Professor, RCSI Pediatrics, Consultant Respiratory Medicine, CHI

Cystic fibrosis is a genetic disease that primarily affects the lungs and digestive system. Ireland has the highest incidence of the disease in the world, with around 1,400 children and adults living with the disease and more than 30 new infections.

Cystic fibrosis is diagnosed here each year through newborn screening programs, usually around the fourth week of life.

In recent years, new drugs have emerged that target the fundamental defects that cause cystic fibrosis. Ivacaftor (Kalydeco) is one such treatment. The study targets a genetic change found in around 4% of cystic fibrosis patients worldwide and around 10% in Ireland.

Brothers Kara (age 5) and Isaac Moss (age 2) both took part in the study through Children's Health Ireland. Kara was involved in the early stages of the study that led to the drug's approval for older children and the latest trial in which Isaac participated.

Isaac was the first baby in the world to be diagnosed with cystic fibrosis at birth and enrolled directly into trials for these breakthrough treatments.

“Both Carla and Isaac are doing very well and are not exhibiting any of the typical symptoms of cystic fibrosis at this time,” said their mother Debbie.

“Research studies like this are critical to ensuring that children receive the right treatment as soon as possible. With the right medicines, children can have a healthy childhood and a brighter future. You can look forward to it.”

Ivacaftor is manufactured by the pharmaceutical company Vertex Pharmaceuticals, which is currently applying to the European Medicines Agency to extend its marketing authorization until the first month of life.

Research “Safety and efficacy of Ivacaftor for infants aged 1 to 4 months with cystic fibrosis was published in the Journal of Cystic Fibrosis and included researchers from RCSI, Children's Health Ireland, the US and the UK.