The European Medicines Agency (EMA) recently accepted a submission of variation for a new indication from PTC Therapeutics regarding Translarna (ataluren) for nonsense mutation cystic fibrosis (nmCF), which would allow the drug to be prescribed to patients who are currently not on chronic inhaled aminoglycoside antibiotic treatments. EMA approval will ultimately make Translarna the first oral protein restoration agent that can address nmCF at the source.

To support its submission, PTC Therapeutics conducted a Phase III double-blind, placebo-controlled study on patients with nmCF. A Phase III extension study, entitled “Extension Study of Ataluren for Nonsense Mutation Cystic Fibrosis,” is currently enrolling participants by invitation only, and will test the safety profile characterized by type, frequency, severity, timing, and adverse events or laboratory abnormalities. The study will feature orally administered Ataluren at a dose of 10 mg/kg in the morning, 10 mg/kg at midday, and 20 mg/kg in the evening for up to 96 weeks, and is expected to yield top-line results by the end of 2016.

PTC Therapeutics CEO Stuart Peltz commented: “We are eager to bring Translarna to patients with nonsense mutation cystic fibrosis, who currently have no other treatment options for the underlying cause of their disorder. We look forward to working with regulators to help bring this precision based medicine to patients as quickly as possible.”

Translarna is a therapy best known in the Muscular Dystrophy community. The drug is approved in the European Economic Area as a treatment for nonsense mutation Duchenne muscular dystrophy in patients as young as 5 years old, and is still an investigational new drug in the United States. The therapy is a novel, orally administered small-molecule compound for the treatment of patients with genetic disorders due to a nonsense mutation.

Ataluren is in clinical development for the treatment of Duchenne muscular dystrophy caused by a nonsense mutation (nmDMD) and cystic fibrosis caused by a nonsense mutation (nmCF). The therapy, which is the first treatment approved for the underlying cause of DMD, was granted conditional marketing authorization in the European Union under the trade name Translarna™ for the treatment of nmDMD in ambulatory patients aged five years and older. The European Medicines Agency has designated ataluren as an orphan medicinal product, and the U.S. Food and Drug Administration has granted orphan drug designation to ataluren for the treatment of both nmDMD and nmCF.