Landmark study validates Cystic Fibrosis drug for infants as young as four weeks old

By Liza Laws

- Last updated on GMT

© RCSI University of Medicine and Health Sciences
© RCSI University of Medicine and Health Sciences

Related tags Cystic fibrosis Clinical trial children Clinical research Research

In a groundbreaking revelation, a study conducted by RCSI University of Medicine and Health Sciences and Children’s Health Ireland has confirmed the safety and efficacy of a Cystic Fibrosis drug in newborns as young as four weeks old.

This discovery marks a significant moment for Cystic Fibrosis treatment, with experts hailing it as a breakthrough.

Lead researchers have emphasized the monumental nature of this finding, especially as it pertains to the treatment of Cystic Fibrosis in infants. The drug, Ivacaftor (Kalydeko), originally formulated for adults, has gradually gained approval for use in younger age groups over the years. However, this latest research suggests its effectiveness in infants as young as four weeks, a milestone previously unexplored.

Cystic Fibrosis specialists underscore the importance of early intervention in slowing or halting the progression of the disease in children. With this study's results, there is newfound optimism that eligible newborns could commence treatment immediately following diagnosis, revolutionizing current practices that typically delay treatment until infants reach four months of age.

“This is a huge moment in Cystic Fibrosis,” said Paul McNally, associate professor of paediatrics at RCSI and Consultant in Respiratory Medicine at CHI. 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.”

Cystic Fibrosis, a hereditary condition predominantly affecting the lungs and digestive system, poses significant challenges for affected individuals and their families. With Ireland experiencing the highest incidence of the disease globally, the implications of this study resonate deeply within the local community and beyond.

The study's impact extends beyond academic circles, touching the lives of real families like that of siblings Kara and Isaac Moss. Participating in the study through Children’s Health Ireland, both children have defied expectations, experiencing remarkable health despite their diagnosis. Their mother, Debbie, emphasizes the importance of such research endeavors in ensuring timely access to life-changing treatments for children with Cystic Fibrosis.

Siblings Kara, 5, and Isaac Moss, 2, both participated in the study through Children’s Health Ireland. 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 Isaac took part in.

Isaac was the first baby with Cystic Fibrosis in the world to be diagnosed from birth and enrolled directly in a trial of these ground-breaking treatments.

“Both Kara and Isaac are doing 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.”

Manufactured by Vertex Pharmaceuticals, the drug Ivacaftor is currently undergoing regulatory review for expanded authorization, potentially reaching infants as young as one month old. This development represents a significant step forward in the fight against Cystic Fibrosis and offers renewed hope for countless families worldwide.

The study, titled ‘Safety and efficacy of Ivacaftor in infants aged one to less than four months with Cystic Fibrosis,’ published in the Journal of Cystic Fibrosis, underscores the collaborative efforts of researchers from RCSI, Children’s Health Ireland, the USA, and the UK in advancing Cystic Fibrosis treatment for the most vulnerable patients—infants.

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