A new study conducted by RCSI University of Medicine and Health Sciences and Children’s Health Ireland has found that a drug for Cystic Fibrosis, which targets the underlying defect that causes the condition, has been proven to be safe and effective in newborns who are four weeks old and older. According to one of the lead researchers, this discovery is considered a significant milestone for Cystic Fibrosis. The study also included the participation of the first baby in the world.The drug Ivacaftor, also known as Kalydeko, is the first medication specifically developed to address the underlying defect in Cystic Fibrosis. It was initially authorized for use in adults and then gradually approved for older and younger children over the course of several years. Currently, it is sanctioned for infants as young as four months old, but new research indicates that it could be safe and effective for babies as young as four weeks old. Specialists in Cystic Fibrosis anticipate that starting treatment at an earlier age could potentially slow down or even stop the progression of the condition.in the treatment of Cystic Fibrosis, has shown to significantly improve lung function in children, prompting international research studies led by RCSI and Children’s Health Ireland. The results of these studies may lead to the possibility of administering the medication to eligible infants as soon as they are diagnosed, rather than waiting until they are four months old.
Paul McNally, Associate Professor of Paediatrics at RCSI and Consultant in Respiratory Medicine at CHI, described the study as a major breakthrough in the field of Cystic Fibrosis. The study, published in the Journal of Cystic Fibrosis, was co-authored by McNally. “Ivacaftor has shown significant improvement in the treatment of Cystic Fibrosis over the years, and this development has the potential to greatly impact the way we approach treatment for affected children,” McNally stated.Kalydeko has undergone clinical trials in increasingly younger children, and this study has demonstrated its safety and effectiveness in children as young as four weeks old,” he noted. “This is a significant advancement because most children are diagnosed through newborn screening at this age. Having a treatment that addresses the root cause of the disease in newborns and can be initiated immediately upon diagnosis will offer families a great deal of comfort and hope.”
Cystic Fibrosis is a genetic disease that primarily impacts the lungs and digestive system. Ireland has the highest occurrenceThe prevalence of Cystic Fibrosis in Ireland is high, with approximately 1,400 children and adults living with the condition. More than 30 new cases are diagnosed each year, usually detected around 4 weeks of age through the newborn screening programme. In recent years, there have been new medicines developed to target the underlying defect that causes Cystic Fibrosis. Ivacaftor (Kalydeko) is one such treatment that focuses on a genetic mutation present in around 4% of people with Cystic Fibrosis globally, and about 10% in Ireland. Siblings Kara (aged 5) and Isaac Moss (aged 2) have both taken part in the study.The research was conducted through Children’s Health Ireland. Kara participated in an earlier stage of the study, which led to the approval of the drug for older infants. This paved the way for the latest trial that Isaac was a part of. Isaac, the first baby in the world to be diagnosed with Cystic Fibrosis from birth, was enrolled directly onto a trial for these innovative treatments.
“Both Kara and Isaac are currently doing very well and surprisingly are not experiencing any of the typical symptoms of Cystic Fibrosis,” their mother Debbie stated.
Debbie emphasized the importance of research studies like this one in ensuring that children have access to the right treatments.as early as possible. With the right medications, children can have a healthy childhood and look forward to a brighter future”
The pharmaceutical company Vertex Pharmaceuticals manufactures Ivacaftor and is currently seeking an extension to the marketing authorization for Ivacaftor for infants as young as one month old from the European Medicines Agency.
