PTC Therapeutics’ Cystic Fibrosis Nonsense Mutation Therapy Translarna Receives Key EMA Validation

Daniela Semedo, PhD avatar

by Daniela Semedo, PhD |

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The European Medicines Agency (EMA) recently announced that it has validated the submission of a new indication for Translarna (ataluren) developed by PTC Therapeutics as a nonsense mutation cystic fibrosis (nmCF) treatment.

PTC Therapeutics, a company that develops and assembles an integrated set of proprietary technologies focused on understanding of RNA biology for the discovery of novel small molecule therapeutics, recently stated that the variant is for patients who are not being treated with chronic inhaled aminoglycoside antibiotics. Nonsense Cystic Fibrosis is caused by the G542X mutation in the cystic fibrosis transmembrane conductance regulator gene.

If Translarna is approved, it will be the first oral protein restoration therapy directly targeting nmCF’s underlying cause. The therapy was recently compared to placebo in a Phase 3 double-blind, placebo-controlled clinical trial in patients with nmCF.

PTC Therapeutics is now conducting another Phase 3 clinical trial of the drug agent in patients with nmCF patients. Top line results of this trial are expected to be published at the end of 2016. The company’s CEO Stuart Peltz said in a recent press release: “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,” adding, “We look forward to working with regulators to help bring this precision based medicine to patients as quickly as possible.”

Translarna (ataluren) interacts with the ribosome, which is the component of the cell that decodes the mRNA molecule and manufactures proteins, in order to enable the ribosome to read through premature nonsense stop signals in mRNA and allow the cell to produce a full-length, functional protein. The company believes that this approach can treat many genetic disorders caused by a nonsense mutation.

Translarna is a new investigational drug in the US and only available to US patients through clinical trials. Ataluren is licensed in the European Economic Area for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD) in ambulatory patients aged five years and older.