“Translarna was the first therapeutic ever approved for nonsense mutation Duchenne muscular dystrophy patients and we are excited to expand approval of Translarna into Russia,” Stuart W. Peltz, PhD, said in a press release. Peltz is CEO of PTC Therapeutics, which markets Translarna.
“There has been great interest from Russian physicians to be able to access a treatment that targets the underlying cause of the disease, and a number of nmDMD [nonsense mutation DMD] patients have already been identified who can potentially benefit from Translarna,” Peltz said. “Our goal is to bring this product to nmDMD patients globally and this approval marks another important milestone.”
DMD is caused by a lack of a key protein for muscle health, called dystrophin, as a result of mutations in the DMD gene. Some people with Duchenne have a type of alteration in DMD called a nonsense mutation. This kind of mutation introduces a stop signal, called a stop codon, in the genetic sequence.
When the mutated gene is translated into a protein, the stop codon causes the cellular protein-making machinery to stop too early, leading to the production of a truncated dystrophin protein that cannot function properly.
Translarna works by making cells ignore this abnormal stop codon, enabling the production of full-length, working dystrophin protein. According to PTC, about 13% of DMD patients have a nonsense mutation.
Results from STRIDE (NCT02369731), an ongoing observational study recruiting across multiple care centers in Europe and Israel, have shown that boys receiving Translarna plus standard treatment retained their ability to walk independently longer than would be expected with standard treatment alone. Data from STRIDE also indicated the treatment can preserve lung function when compared with matched DMD patients who participated in a study assessing the natural course of the disease.
PTC is conducting a global Phase 3 trial (NCT03179631) to evaluate the long-term effects of Translarna in DMD patients, ages 5 and older, who are able to walk.
Translarna is not yet approved in the U.S., as the U.S. Food and Drug Administration concluded the evidence supporting the treatment’s effectiveness in DMD was still insufficient.
In the European Union, it is approved for some DMD patients 2 and older who carry nonsense mutations and are able to walk, but a label extension has been recommended to expand the approval to include patients who cannot walk.
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