There has been a lot in the press about this drug recently, as it really is the closest thing we have at the moment by way of hope of a treatment for some mitochondrial disorders.

What is EPI-743?

EPI-743, also known as Vincerinone, is a tablet taken by mouth, developed by a US Company called Edison Pharmaceuticals.

It is a type of CoEnzyme Q10, which is found naturally in our cells and is essential for proper energy production within the mitochondria.

How does it work?

EPI-743 works like CoEnzyme Q10, as anti-oxidant, carrying electrons along the energy chain to make energy in the form of ATP.

EPI-743 is reported to be more potent and more highly absorbed than naturally occurring CoEnzyme Q10.

What is it supposed to do?

It is supposed to increase the amount of energy the mitochondria can produce which might reduce some of the symptoms of Mitochondrial Disease.

Is it a cure?

Unfortunately no, EPI-743 cannot correct the underlying genetic defect, which causes the disease.

What types of MD could it treat?

It is currently being trialed in Leigh Syndrome and MELAS but if successful, it could be used to treat any inherited mitochondrial respiratory-chain disease.

Have there been any trials of EPI-743?

Initially this drug was trialed on terminally ill children in the USA/Europe on compassionate grounds. The assumption was that that these children were expected to die and there was no risk in trying something new.

Quite surprisingly many of these children seemed to show improvement, which was backed up with clinical observations and improvement on their brain scans.

Edison therefore decided to expand this trial to 10 more children in the USA with genetically confirmed Leigh Syndrome (all with different genetic causes) and they monitored a variety of different aspects of their health over 6 months.

Results were published in 2012 and showed that over the duration of the trial, all 10 patients exhibited reversal of disease progression regardless of genetic defect or disease severity, and none showed obvious adverse reaction to the drug.

How do the researchers know that EPI-743 was the reason for improvement?

This is very hard to prove, because the natural course of mitochondrial diseases can be up and down, so it can be hard to assess whether the introduction of a drug at a specific point is the cause of the improvement or decline.

In addition, all the children selected (and their families) knew they were taking the drug and why, so they could have had pre-conceived ideas about what it would do.

This phenomenon (known as the placebo effect) can happen where a person takes a medicine that he or she perceives will help, although it has no proven therapeutic effect for the condition. They then believe that the medicine is working and they see improvement, which may or may not really be there.

As a result, the medical community called for Edison to undertake further trials.

Further Trials - ongoing

The further trials are currently ongoing and involve the use of an active and inactive drug - used in two groups of patients side by side so that the patients didn’t know which one they were taking. This is known as a ‘double-blind placebo-controlled trial’ and gives the best quality evidence.

The groups are then swapped over after 6 months, so each child will receive the active drug for half of the trial.  Disease progression assessments are undertaken throughout.

This study is now taking place at several centers in the USA.

These are good quality clinical trials and produce valid results that the medical profession (and drug prescribing agencies) take seriously, so we are eagerly awaiting these results.

The trial is no longer recruiting participants and initial results are expected in late 2015.

Will we get EPI-743 in the UK?

Whilst we really hope that this drug is effective, it is possible that the outcome of the trial may show that EPI-743 has no significant benefit, or could even be harmful for patients.

Results of the latest trial are expected in September 2015 and should EPI-743 prove to be of benefit, then we would anticipate the NHS being able to provide this drug to UK patients very quickly thereafter.

Are there any medical papers on these trials?

Molecular Genetics and Metabolism – Jan 2012

Molecular Genetics and Metabolism – Nov 2012

Are there any patients on the trial that I can read about?

We know of a few US patients on the trial that are writing a blog with some detail about their experiences of EPI-743. You can read these by following the links below.

Please remember that these are the personal views of the families involved.

Hope for Katherine Belle (Aug 2015)

The Martin Family and Mito

Alex's Story

The Freckled Toe

Celebrating Samantha

Reagan Leigh

Counting Our Blessings

Moves Like Jagger