‘A brighter future’ – Irish siblings at centre of study showing cystic fibrosis drug is safe for newborns
Research hailed as so ‘important to ensuring children get access to right treatments early’
Atwo-year-old boy and his sister have played a major role in a new study showing a drug targeting the basic defect that causes cystic fibrosis is safe and effective in newborns aged four weeks and above.
It has been hailed as a “huge moment” by one of the lead researchers from RCSI University of Medicine and Health Sciences and Children’s Health Ireland .
Sister and brother Kara (5) and Isaac Moss (2), from Co Meath, took part in the study through Children’s Health Ireland.
Kara was part of an earlier phase of the study that paved the way for the approval of the drug in older infants and led to the latest trial that Isaac took part in.
He was the first baby with cystic fibrosis in the world to be diagnosed from birth and enrolled directly on to a trial of these ground-breaking treatments.
Kara and Isaac’s mother, Debbie, said: “Both are doing really well and remarkably are not experiencing any of the typical symptoms of cystic fibrosis at the moment.
“Research studies like this one are so important to ensuring that children get access to the right treatments as early as possible.
“With the right medications, they can enjoy a healthy childhood and look forward to a brighter future.”
The drug, Ivacaftor (Kalydeko), is the first designed to treat the basic defect in cystic fibrosis.
It was originally given the green light for adults, then 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.
Cystic fibrosis experts forecast that the earlier treatments can begin, the more likely that progression of the condition can be slowed down or halted in children, and this is the focus of several international research studies led by RCSI and Children’s Health Ireland.
The findings of this study could pave the way for eligible newborns to start treatment on the medicine at the time of diagnosis – typically at newborn screening – rather than having to wait until they are four months old.
“This is a huge moment in cystic fibrosis,” said Paul McNally, associate professor of paediatrics at RCSI and consultant in respiratory medicine at CHI.
Mr McNally is one of the authors of the new study, which was published in the Journal of Cystic Fibrosis.
“Over the years, Ivacaftor, or Kalydeko, has been put through clinical trials in younger and younger children,” he said.
“Now, through this study, it has been shown to be safe and effective all the way down to four weeks of age. This is an important development because almost all children are diagnosed through newborn screening at around this time.
“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.”
Cystic fibrosis is an inherited disease that mainly affects the lungs and digestive system.
Ireland has the highest incidence of the condition in the world. About 1,400 children and adults here live with the condition and more than 30 new cases of cystic fibrosis are diagnosed here each year, typically around four weeks of age through the newborn screening programme.
In recent years, new medicines have emerged that target the basic defect that causes cystic fibrosis.
Ivacaftor (Kalydeko) is one such treatment. It targets a genetic change seen in around 4pc of people with cystic fibrosis worldwide and around 10pc in Ireland.
Ivacaftor is manufactured by Vertex Pharmaceuticals, which is currently applying to the European Medicines Agency for an extension to the marketing authorisation for Ivacaftor down to one month of age.
The study also involved children from the US and the UK.
“Through this study, it has been shown to be safe and effective all the way down to four weeks of age”