Ataluren is an investigational therapy being developed by PTC Therapeutics for possibly treating Dravet syndrome. It is marketed under the brand name Translarna to treat Duchenne muscular dystrophy within the European Union, Iceland, Liechtenstein, Norway, Israel, and South Korea.

How ataluren works

Dravet syndrome is a genetic disorder associated with seizures resistant to many common antiepileptic treatments. Several mutations have been identified that cause Dravet syndrome, including nonsense mutations.

A nonsense mutation is a change in a gene, that adds a “stop” signal part-way through the instructions that are needed to make a protein. This results in the production of a shorter non-functional version of the protein, which is later destroyed by the body.

Ataluren is called a translational read-through treatment. It interacts with the protein-making machinery of the cell, allowing it to ignore the premature stop signal and make a complete protein.

Increasing protein levels should address the underlying cause of Dravet syndrome, not just the symptoms. This means that ataluren also may improve non-seizure complications associated with Dravet syndrome,  including cognitive, behavioral, and motor problems.

Dravet syndrome is associated with mutations in several genes, with the most common being the SCN1A gene. No investigations for ataluren with SCN1A mutations have been carried out to date, but as multiple SCN1A nonsense mutations have been identified, this is still a possibility for research.

Other rarer nonsense mutations can be found in the CDKL5 and GABRG2 genes and lead to Dravet syndrome. A study, published in the journal Neurobiology of Disease, investigated a different type of translational read-through therapy on cells with nonsense mutations in the GABRG2 gene. The results of the study demonstrated that the therapy successfully increased GABRG2 protein levels, but suggested that ataluren may be a better and less toxic option for future study.

Ataluren in clinical trials for Dravet syndrome

An ongoing Phase 2 randomized, double-blind, placebo-controlled clinical trial (NCT02758626) is currently recruiting an estimated 16 patients, with drug-resistant Dravet syndrome caused by nonsense mutations in the CDKL5 gene. The trial is taking place at the New York University School of Medicine.

During the trial, patients will receive either ataluren or a placebo for 12 weeks, followed by a four-week wash-out period and cross over to the opposite treatment for 12 weeks more.

Patients will be monitored for up to a year from the start of the trial, to assess the safety and potential effects of the treatment. This will include assessing changes in seizure frequency, cognitive behavior and quality of life.

This trial is only for a small subset of patients with Dravet syndrome, and further trials will be necessary to investigate ataluren’s potential effect on mutations in other genes.

Other information

Common side effects of ataluren include vomiting, diarrhea, nausea, headache, stomachache, and flatulence.


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