Ataluren for Genetic Disorders

Our lead product candidate, ataluren, is a novel, orally administered small-molecule compound for the treatment of patients with genetic disorders that arise from a type of genetic mutation known as a nonsense mutation. Ataluren is in late stage clinical development for the treatment of Duchenne muscular dystrophy caused by nonsense mutations, or nmDMD, and cystic fibrosis caused by nonsense mutations, or nmCF. There are currently no marketed therapies approved to treat the underlying cause of nmDMD or nmCF. 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 both nmDMD and nmCF.

On May 22 2014, the Committee for Medicinal Products for Human Use (CHMP) of the EMA adopted a positive opinion regarding conditional marketing authorization of ataluren for the treatment of nmDMD in ambulatory patients aged five years and older. The CHMP opinion will form the basis for a European Commission decision as to whether to formally grant the conditional marketing authorization. The European Commission will review the positive opinion from the CHMP and generally delivers its final decision within three months. In the EU, ataluren will now be known by the brand name Translarna™.

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, cystic fibrosis and other genetic disorders for which a nonsense mutation is the cause of the disease.

Ataluren-facilitated translation of an mRNA into protein

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 and cystic fibrosis, to determine if the underlying cause is a nonsense mutation.

For additional information, please visit the Contact Us page of our website. Patients, families and advocacy groups may also contact our Patient and Professional Advocacy department at 866-282-5873, 908-912-9256 or