The Moss family, who participated in the trials. Image: Patrick Bolger
The trials featured two Irish siblings, now aged two and five, whose mother said they had improved. The study centred around the efficacy of the drug Ivacaftor, which is already used in adults and children.
Scientists at the Royal College of Surgeons Ireland (RCSI) have found that a drug called Ivacaftor is safe to be used to treat babies with cystic fibrosis.
Ivacaftor, also known as Kalydeko, has already been approved for adult and child cystic fibrosis patients, but this is the first time the drug has been proven safe in babies aged four weeks and up. The drug targets the basic defect that causes cystic fibrosis, an inherited condition that mainly affects the lungs and digestive system.
As one of the study’s co-authors, Prof Paul McNally, associate professor of paediatrics at RCSI, pointed out, the discovery is “a huge moment in cystic fibrosis”.
“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,” he added.
Treatment can be availed of sooner
“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.”
The breakthrough is also significant for Irish people, as we have some of the highest incidences of cystic fibrosis in the world. Some 1,400 children and adults in Ireland live with the condition and more than 30 new cases are diagnosed each year. As McNally mentioned, diagnoses are typically performed when a patient is four weeks old via the newborn screening programme.
Good news for Irish patients
Two young cystic fibrosis patients, siblings Kara and Isaac Moss both participated in the study through Children’s Health Ireland. Five-year-old 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 that two-year-old Isaac took part in.
“Both Kara and Isaac are doing really well and remarkably are not experiencing any of the typical symptoms of cystic fibrosis at the moment,” said their mother Debbie.
“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 RCSI study shows that, in time, newborns who are diagnosed with cystic fibrosis could start treatment with Ivacaftor immediately following diagnosis. The earlier patients are treated, the better outcomes they are likely to have as they get older, scientists say.
Ivacaftor is manufactured by pharmaceutical company 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 research was carried out by the RCSI with Children’s Health Ireland and academics from the US and UK. Their paper was published in the Journal of Cystic Fibrosis. The RCSI was awarded €5.6m last year to further its research activities in the cystic fibrosis area.
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