Ataluren (Translarna™) for Genetic Disorders
Licensed in the European Economic Area, Investigational in other jurisdictions

Our lead product candidate, ataluren, 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). Ataluren is approved within the European Union (EU) Member States, Iceland, Liechtenstein, Norway, Israel and South Korea under the trade name Translarna™ for the treatment of nmDMD in ambulatory patients aged five years and older. Translarna is the first treatment approved for the underlying cause of DMD. The European Medicines Agency, or EMA, has designated ataluren as an orphan medicinal product and the U.S. Food and Drug Administration, or FDA, has granted orphan drug designation to ataluren for the treatment of nmDMD.

Nonsense mutations are implicated in a variety of genetic disorders and create a premature stop signal in the translation of the genetic code contained in mRNA, which prevents the production of full-length, functional proteins. We believe that ataluren interacts with the ribosome, which is the component of the cell that decodes the mRNA molecule and manufactures proteins, to enable the ribosome to read through premature nonsense stop signals on mRNA and allow the cell to produce a full-length, functional protein. As a result, we believe that ataluren has the potential to be an important therapy for muscular dystrophy and other genetic disorders for which a nonsense mutation is the cause of the disease.

Figure 1. Translation of an mRNA into protein: comparison of normal translation, premature termination of translation, and treatment with ataluren inducing synthesis of functioning protein.

Genetic tests are available for many genetic disorders, including Duchenne muscular dystrophy, to determine if the underlying cause is a nonsense mutation.