Translarna, also known as ataluren, is an oral medication developed to treat Duchenne muscular dystrophy (DMD). It has not yet been approved in the USA or in Canada, but is available in other countries, including the United Kingdom.
The treatment is designed to help restore dystrophin protein among those whose DMD is caused by a nonsense mutation. A nonsense mutation is a pathogenic (meaning disease causing) variant in the DMD gene that causes a premature stop code during dystrophin development, creating an abnormal non-functional shorter version of the dystrophin protein or no protein altogether. Approximately 15% of DMD patients have a nonsense mutation.
In the US, the initial application to seek approval for Translarna in 2017 was denied due to a lack of evidence over the drug’s effectiveness. Since then, there have been two clinical trials (a phase 2 trial with 174 participants, and a phase 3 trial with over 300 participants, that included males with DMD who 5 years of age or older. In addition, an ongoing observational study was conducted in places where this treatment was approved, and results of this study, known as the STRIDE registry study, revealed that in 268 registry participants, those who were treated with the drug were ambulatory longer than those who did not receive the drug, and their lung function was better than those who did not receive the drug. Despite this, in recent years, the US and many European countries have issued negative reviews around the drug due to a lack of significant clinical effectiveness.
Recently, the Food and Drug Administration in the US has voiced concerns over how well this drug works on nonsense mutations in DMD, and as a result, PTC Therapeutics, the developers of the drug, have pulled their ‘new drug application (NDA)’ fearing it would not meet the threshold for effectiveness to be approved.
Want to know more about Duchenne Research?
Scientists and medical experts have been tirelessly pursuing diverse approaches to defeat Duchenne muscular dystrophy. From tackling the root cause to alleviating symptoms, the field of research is vast and promising. Explore the various strategies being developed and tested, and gain insights into the future of muscular dystrophy treatment: