June 13, 2024

Groundbreaking Study Supports Early Use of Cystic Fibrosis Drug in Infants

A recent study conducted by researchers from RCSI University of Medicine and Health Sciences and Children’s Health Ireland has found that a cystic fibrosis drug, Ivacaftor (Kalydeko), is safe and effective for newborns aged four weeks and above. This research marks a significant advancement in the treatment of cystic fibrosis, with experts emphasizing the importance of early intervention in slowing down or halting the progression of the condition.

Cystic fibrosis is a genetic disease that primarily affects the lungs and digestive system. In Ireland, where the incidence of the condition is the highest globally, approximately 1,400 children and adults are living with cystic fibrosis, with over 30 new cases diagnosed each year through newborn screening programs.

Ivacaftor, the drug under study, targets the underlying genetic defect responsible for cystic fibrosis and has shown promising results in clinical trials with younger children over the years. While initially approved for adults, the drug has gradually been cleared for use in older and younger children. The recent research suggests that Ivacaftor can be safely administered to infants as young as four weeks old, paving the way for early treatment initiation upon diagnosis, rather than waiting until the traditional four-month mark.

Lead researcher Paul McNally, an Associate Professor of Pediatrics at RCSI and Consultant in Respiratory Medicine at Children’s Health Ireland, expressed enthusiasm about the study’s findings. He highlighted the significance of providing families with reassurance and hope by offering a treatment that addresses the root cause of the disease from the time of diagnosis.

The study, titled “Safety and Efficacy of Ivacaftor in Infants Aged 1 to Less Than 4 Months with Cystic Fibrosis,” published in the Journal of Cystic Fibrosis, involved collaboration among researchers from RCSI, Children’s Health Ireland, the U.S., and the UK.

Notable participants in the study include siblings Kara and Isaac Moss, aged 5 and 2, respectively, who have both benefited from the groundbreaking treatments. Isaac, the first baby in the world with cystic fibrosis to be diagnosed from birth and enrolled in the trial, along with Kara, has shown positive outcomes without experiencing typical symptoms of the condition.

The success of this study has prompted Vertex Pharmaceuticals, the company behind Ivacaftor, to seek an extension of the drug’s marketing authorization to include infants as young as one month of age from the European Medicines Agency.

The research serves as a beacon of hope for families affected by cystic fibrosis, underlining the importance of early intervention and access to innovative treatments to improve the quality of life for children with the condition. With continued advancements in medical research, there is newfound optimism for a brighter future for individuals living with cystic fibrosis.

1. Source: Coherent Market Insights, Public sources, Desk research
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