Friedreich's ataxia (FA) is caused by a mutation of the frataxin (FXN) gene, leading to decreased levels of frataxin protein. Since frataxin levels influence disease severity, the main goal of therapy for FA is to increase frataxin levels.

In January last year, Ataxia UK reported on an effort to repurpose an anti-viral drug, currently in use as a therapy for HIV, as a potential candidate for Friedreich’s ataxia (FA) therapy. During experiments conducted in mice, the researchers, from the University of Rome in Italy, discovered that Etravirine is able to increase levels of frataxin in heart and skeletal muscle. They also discovered that the drug could increase levels of frataxin protein in cells derived from FA patients.

As the next step, the researchers plan to launch an open-label, phase 2 clinical trial aimed at assessing the safety and efficacy of Etravirine in people with FA. They aim to recruit 30 FA patients between 10 and 40 years old, to test two different doses of Etravirine over a four month period. The researchers will be looking to see how the drug affects the participants’ oxygen uptake, cardiac function and the severity of their ataxia symptoms based on the SARA (Scale for Assessment and Rating of Ataxia) score. They will also be measuring the levels of frataxin protein present in the participants’ blood. They will take measurements 4 months before the start of the treatment, at the start, after 2 months, at the end of the treatment, and 4 months after the termination of the treatment.

The study is currently estimated to begin at the end of March 2020. For more updates, keep an eye on the information page for this trial

Posted on 21/02/2020