Ashbourne boy youngest in the world to trial landmark cystic fibrosis drug

A young Ashbourne boy became the first newborn baby in the world to be enrolled in a trial of a ground-breaking drug that treats Cystic Fibrosis.

Isaac Moss, now two, is doing "remarkably well" on the drug, according to his mum Debbie, who also told how their daughter Kara (6) was involved in an earlier study into Ivacaftor (Kalydeko) which is designed to target the basic defect that causes Cystic Fibrosis.

Today is '65 Roses Day', the national fundraising day for Cystic Fibrosis Ireland.

The new research, which Isaac took part in, involving RCSI University of Medicine and Health Sciences and Children’s Health Ireland found that the drug is safe for use in babies from four weeks. The finding is described has been described as a ‘huge moment’ for Cystic Fibrosis by one of the lead researchers.

The medicine was originally approved for adults, 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 that it is safe and effective for babies as young as four weeks of age and could pave the way for eligible newborns to start treatment on the medicine at the time of diagnosis rather than have to wait until they are four months old.

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. Approximately 1,400 children and adults in Ireland live with the condition and more than 30 new cases of Cystic Fibrosis are diagnosed here each year.

Experts predict that the earlier treatments can begin, the more likely that progression of the condition can be slowed down or halted in children.

In recent years, new medicines have emerged that target the basic defect that causes Cystic Fibrosis and Ivacaftor (Kalydeko) is one such treatment.

Kara and Isaac's mum Debbie has spoken of how well the siblings are doing on the treatment and said that neither of them are experiencing the symptoms typically associated with Cystic Fibrosis. She said they were very lucky to have access to the trials and that these drugs have such an impact on the lives of children with cystic fibrosis, making it a much more managable condition than it would have been years ago, when children would have had a lot more hospitalisations throughout their lives.

Debbie recalled what a huge shock it was to learn that their older daughter Kara (6) had cystic fibrosis when she was a few weeks old after it was picked up in the heel-prick test. Further tests at Crumlin Hospital confirmed the diagnosis. For a child to have cystic fibrosis, both parents must carry the gene but neither Debbie or husband Wayne were aware they were carriers. While a cousin of Wayne's had the condition, Debbie said it was not in their immediate family.

"It was a huge shock. Kara was our first child and we were already coming to terms with having a newborn baby and to have this thrown in the mix. We didn't really know what it meant or what it meant for Kara," recalled Debbie.

She said it was hugely upsetting and a big shock to get the diagnosis but they were very lucky to have the team in Crumlin who were very reassuring and told them how things were changing for cystic fibrosis with new medications andsaid they were lucky that Kara was able to go on a trial when she was nine months old. The drug was effective and meant she could reduce some of her daily medication.

"It showed us that it was becoming very managable to deal with Cystic Fibrosis on a daily basis," said Debbie and this helped them in their decision to have a second child as they felt it was a manageable disease and the benefit of having a sibling for Kara outweighing it.

They knew there was a one in four chance their second child would have it and found out during Debbie's pregnancy that their second baby also had it.

This meant they could plan and as soon as Isaac was born they had a plan in place for his treatment.

Isaac started on the drug at four weeks of age, making him the youngest baby in the world to being treatment on the drug when he enrolled in the trial. Both children are doing really well and Debbie spoke of the importance of research studies like this one in 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,” she said.

Speaking about the research, Paul McNally, Associate Professor of Paediatrics at RCSI and Consultant in Respiratory Medicine at CHI, said it was "a huge moment in Cystic Fibrosis,” . 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. Now, through this study, it has been shown to be safe and effective all the way down to four weeks of age,” he said. “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.”

Ivacaftor is manufactured by pharmaceutical company Vertex Pharmaceuticals, who are currently applying to the European Medicines Agency for an extension to the marketing authorisation for Ivacaftor down to one month of age.

The study, ‘Safety and efficacy of Ivacaftor in infants aged 1 to less than 4 months with Cystic Fibrosis’, is published in the Journal of Cystic Fibrosis and involved researchers from RCSI, Children’s Health Ireland, the USA and the UK.