What Research Is Going On In The World?

It is a very exciting time for Mitochondrial Disease research. Greater awareness of the condition and improved diagnosis have resulted in an increasing number of global research centres undertaking valuable work on potential drug treatments. 

Whilst a lot of information is published in medical journals, many of these breakthrough's are still a number of years away from clinical trails so we have focused our information on the treatments that are looking the most promising and that we hope will be of benefit to patients in the near future.


In clinical trial.

Find out more

Elamipretide (formerly Bendavia)

In clinical trial.

Elamipretide (formerly Bendavia)

A new drug called Elamipretide (formerly Bendavia) is currently being developed by a US based pharmaceutical company called Stealth Biotherapeutics.

The drug was initially developed to protect against a special type of tissue damage which is caused when there is a sudden return of blood to an organ after there has been a lack of blood. (This commonly happens on recovery from heart attacks or following organ injury.)

This damage is called ‘reperfusion injury’ and is caused by mitochondria suddenly over-working to restore the balance in the cell. This over-working can generate an overflow of oxygen species (called free radicals) which can trigger wide scale tissue damage and cell death.

Elamipretide focuses on preventing the mitochondria from wide scale release of these oxygen species, which in turn is thought to reduce cell damage and death.

Developing drugs that target mitochondria is challenging because it is difficult to penetrate cell and outer mitochondrial membranes however in multiple pre-clinical studies, the systemic delivery of elamipretide has been shown to reach the inner mitochondrial membrane and target a lipid critical to maintaining mitochondrial function and cellular energy supply.

Animal models have shown the drug to be effective and Phase II clinical trials are currently underway to test the safety and efficacy of this drug for primary mitochondrial disease and LHON.

In June 2016 initial results from a Phase ii clinical trial on elamipretide (MMPOWER) showed positive results. The findings demonstrated statistically significant improvements in 'distance walked in six minutes' which is an accepted measurement of functional exercise capacity.

Dr. Amel Karaa, the trial investigator and clinical geneticist at Massachusetts General Hospital said “These findings demonstrate the potential for elamipretide to help improve their ability to perform everyday activities. We look forward to further study of this compound in upcoming trials of primary mitochondrial disease.”

You can read the [Press Release] for more details.

Follow on trials to evaluate additional efficacy and longer dosing schedules for patients who participated in MMPOWER began in mid 2016 and are ongoing. Results are expected in mid 2017.



Back to top


In clinical trial.


A new drug called Omaveloxone is currently being developed by a US based pharmaceutical company called Reata Pharmaceuticals.

The drug acts on Nrf2 which is a protein which protects against tissue damage caused by injury or inflammation.

Omaveloxone has been shown in pre-clinical studies to protect cells against oxidative stress, increase the efficiency of energy production and increase mitochondrial biogenesis (production of new mitochondria).

It is hoped that:

- increasing the number of healthy mitochondria will counteract dysfunctional mitochondria.

- improving the overall efficiency of energy production, patients with mitochondrial myopathies will see an improvement in muscle function. 

Currently this drug has just started a clinical trial across the USA and Denmark, which will evaluate the safety, efficacy and pharmacodynamics (what the body does to the drug), in patients with mitochondrial myopathies. The trial completion date is estimated in Dec 2017.

For more information, please visit their website by clicking [here]

Back to top


In clinical trial.

What is Bezafibrate?

Bezafibrate, also known as Bezalip, is a drug commonly used to lower the levels of fats (lipids) in the blood, such as cholesterol.

Some research studies have suggested that Bezafibrate can improve mitochondrial function within cells by increasing mitochondrial biogenesis (the process by which cells change the size and shape of their mitochondria).

How does it work?

Bezafibrate works by switching on production of PGC-1α, a protein that has an important role in mitochondrial biogenesis. There is evidence to suggest that an increase in PGC-1α can trigger mitochondrial biogenesis within cells.

What is it supposed to do?

The increase in mitochondrial biogenesis is thought 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 not. Bezafibrate cannot correct the underlying genetic defect that causes Mitochondrial Disease.

What types of MD could it treat?

It is currently being trialled in patients with evidence of muscle weakness (myopathy) and a particular genetic error causing Mitochondrial Disease (the m.3243A>G mutation) but if successful, it could be used to treat any inherited Mitochondrial Disease.

Have there been any trials of Bezafibrate?

Bezafibrate has been trialled for a number of conditions (other than Mitochondrial Disease) and is already licensed as a treatment. Because of this, the side effects of Bezafibrate are well known.

There is currently one ongoing clinical trial to study the effect of Bezafibrate in patients with Mitochondrial Disease. This is an open-label, non-randomised phase IIb trial, meaning that both the researchers and the participants know what treatment they are taking. The study aims to determine the safety of Bezafibrate in 10 patients with Mitochondrial Disease and collect data to show what effect the drug is having on their symptoms.

What is the latest update on this trial?

To date, 6 participants have completed the trial. Preliminary safety results show that Bezafibrate is well tolerated in patients, both at standard and higher doses. Results showing the clinical effects of the drug are not available yet but are expected in 2017.

The study is still recruiting participants. The estimated completion date of the trial is August 2017.

What next?

The researchers anticipate the need for a larger, randomised trial of Bezafibrate in the future. The results of the current trial will help determine how many patients would be needed in the future trial and what measurements would be used to determine the effect of the drug.

Are there any medical papers on this trial?

Information on the current clinical trial of Bezafibrate in Mitochondrial Disease was presented at the 10th UK Neuromuscular Translational Research Conference. To read the conference abstract, click here: benz_abstract_2017.png

Back to top

Cysteamine Bitartrate (RP103)

In clinical trial.

A new drug called RP103 (Cysteamine Bitartrate) is currently being developed by a US based pharmaceutical company called Horizon Pharma. (formerly Raptor Pharmaceuticals).

This drug is able to increase production of a naturally occurring protein Glutathione which works as a super antioxidant and protects against reactive oxygen species which can cause mitochondrial damage. 

Raptor started a clinical trial in 2014 which was extended in early 2016. The extended trial is looking at children aged 2-17 with genetically confirmed mitochondrial disease.

The trial will asses the safety, tolerability and efficacy of this drug across a wide range of syndromes including Leigh's, LHON, MERFF, MELAS, MNGIE, Kearn-Sayre Syndrome and POLG-related disorders. This study is expected to complete in May 2018.

Edison Pharmaceuticals are currently also developing a similar Glutathione precursor called EPI-589, however at present this is only in clinical trials for ALS and Parkinson's Disease, not mitochondrial disease.

Back to top

GS010 Gene Therpay

In clinical trial.

The French biotechnology company Gensight are working on a gene-therapy based approach to treating mitochondrial diseases LHON (Leber's Hereditary Optic Neuropathy).

Gene therapy is the introduction of normal genes into cells, in place of missing or defective ones in order to correct genetic disorders.

Gensight published results from its Phase I/II study in June 2016 which confirmed good safety and tolerability of GS010 and improvement of visual acuity in patients with an onset of disease of less than 2 years.

Since then they have initiated two Phase III clinical trials in 6 European centers and in the USA to assess the efficacy of GS010 in ND4 LHON patients with earlier onset and results are expected in late 2017. 

Back to top


Has been approved for clinical trial.

What is KL-1333?

KL-1333 is a drug that is currently being investigated as a potential treatment for Mitochondrial Disease. It is being developed in partnership by Yungjin Pharma and NeuroVive.

How does it work?

KL-1333 may be able to increase the amount of energy produced by the mitochondria. It does this by boosting the levels of an enzyme called NAD+ (nicotinamide adenine dinucleotide). NAD+ has several roles in the cell and is important for energy production.

What is it supposed to do?

KL-1333 is believed to improve energy production in several ways. These include increasing the availability of NAD+ for energy production. The increase in NAD+ is also thought to enhance the production of new mitochondria, a process known as mitochondrial biogenesis. Together this could increase the amount of energy the mitochondria can produce, which could reduce some of the symptoms of Mitochondrial Disease.

Is it a cure?

Unfortunately not. KL-1333 cannot correct the underlying genetic defect that causes Mitochondrial Disease.

What types of MD could it treat?

Although preclinical research has suggested that KL-1333 has the potential to treat Mitochondrial Disease, this still needs to be investigated in patients. Clinical development of KL-1333 will focus on specific genetic causes of Mitochondrial Disease in the first instance. NeuroVive will provide more detailed information when it becomes available. If successful, however, KL-1333 could be used to treat any inherited Mitochondrial Disease.

Have there been any trials of KL-1333?

Not yet. A clinical trial application for a phase I study was recently approved and is due to start in 2017. The purpose of this ‘first in human’ study is to investigate the safety of KL-1333 in healthy male volunteers after a single dose of the drug. It will also investigate how well the drug is tolerated and what affect it has on the body. The study is estimated to be completed during 2018.

Are there any medical papers on KL-1333?

There are very few medical papers on KL-1333. A KL-1333 newsletter.pdf newsletter was published by NeuroVive in May 2017 and describes the KL-1333 project:

Back to top