August 2019

The number of clinical trials taking place around the world is slowly increasing, giving renewed hope to patients. The trials are focused on a range of mitochondrial disorders.

KH176, a promising oral small molecule is in Phase IIb of clinical development in the Netherlands. Owned by Khondrion, the compound aims to treat MELAS, Leigh disease, inherited mitochondrial respiratory chain disorders and maternally inherited diabetes and deafness caused by a mutation within mitochondrial DNA. Read more about this trial.

Another potential treatment of inherited mitochondrial respiratory chain diseases is undergoing it’s second early clinical trial (Phase 1a/b) in the UK. The molecule, KL1333, is being developed by NeuroVive to treat primary genetic mitochondrial disorders such as: mitochondrial encephalomyopathy, lactic acidosis and stroke-like episode (MELAS), Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO), Pearson syndrome, and myoclonic epilepsy with ragged red fibres (MERRF) syndrome. Read more about this trial.

A Phase II trial in Barth syndrome patients investigating the use of cholesterol medication opened in the UK in July. The CARDIOMAN clinical trial will evaluate whether cholesterol drug, bezafibrate can treat men and boys with Barth syndrome, a type of mitochondrial disease (mito).  Read more about this trial.

A second trial in Barth syndrome is underway in the USA, investigating injections of elamipretide. This Phase III trial by Stealth BioTherapeutics aims to develop elamipretide as a potential treatment for mito. Read more about this trial.

A Phase III clinical trial of GS010, GenSight Biologics’ gene therapy, is showing encouraging results with Leber hereditary optic neuropathy (LHON) patients. The trial is designed to assess the efficacy and safety of GS010 in improving the visual acuity in patients from the USA, Europe and Taiwan. Read more about this trial.

The first mitochondrial cell therapy trial to treat a mitochondrial disease is taking place in Israel. The Mitochondrial Augmentation Therapy aims to increase the levels of normal mitochondrial DNA in paediatric Pearson syndrome patients. The Minovia Therapeutics trial is in Phase I/II. Read more about this trial.

This article highlights just a few of the growing number of trials taking place around the world. It can take years for new drugs to reach patients, but each new trial brings us closer to the production of effective treatments and cures that are urgently needed to improve and ultimately save lives.

Also see our page on Studies Taking Place in the World.


April 2019

Researchers at St George’s, University of London are developing an enzyme replacement therapy for MNGIE (mitochondrial neurogastrointestinal encephalomyopathy), an ultra-rare, progressive disorder. Patients with MNGIE have a defect in the gene which codes for the enzyme, thymidine phosphorylase and results in affected individuals producing insufficient enzyme. Thymidine phosphorylase is required for the normal metabolism of substances called thymidine and deoxyuridine and in its absence these accumulate to toxic levels in the body, causing damage to the mitochondria, the powerhouses of the cell. Tissues that are heavily dependent on energy, such as muscle, the gastrointestinal system and nervous system are severely affected.

The St George’s team, led by Dr Bridget Bax are investigating the effectiveness of using the patient's own red blood cells (erythrocytes) as a vehicle to carry the missing thymidine phosphorylase in the blood circulation. The erythrocytes provide a protected environment in which the enzyme can function. The encapsulated enzyme reduces the levels of toxic metabolites in the blood, relieving the nervous system and muscle of their damaging effects. Data obtained from the compassionate use of erythrocyte encapsulated thymidine phosphorylase (EE-TP) in patients with MNGIE showed that a reduction in blood thymidine and deoxyuridine levels can be causally linked to clinical benefit. EE-TP has been approved by the Medicines and Healthcare products Regulatory Agency (MHRA), clearing the way for patient clinical trials, Phase II, to begin this year. The team are now applying for approval to extend trials to other countries.

For more information:  and


April 2019

The Recordati Rare Diseases Foundation in France is organising a special course: “Mitochondrial Medicine 30 years on: State of the Art.

The course takes place in Nice, on the 11-13th of April. It is aiming at increasing the knowledge and awareness of mitochondrial disorders among health care professionals. The organising committee is formed by prof. Pascal Laforêt, prof. Shamima Rahman and dr. Angeles Garcia-Cazorla.

Although the course is meant to be for professionals and has a scientific content, a representative of IMP will present and discuss the patient’s perspective. It is good to experience that patient representatives are increasingly invited for such scientific meetings in order to explain the patient’s perspective.

For further information:

January 2019

Welcome to the LOA/LHON group of the Eye Association Netherlands!

For more information:




Download the official Rare Disease Day 2019 poster to display at your events, workplace or home and raise awareness of the impact of rare diseases in your community. The Rare Disease Day poster is available to download in the following formats and sizes:

  • For Web: Available in three sizes (JPG)
  • For Print: Available in two sizes (PDF) as well as one 60 x 80.pdf with a blank white space to fill in your event details
  • For Designers: (with these files, the slogan is customisable to translate into your own language): Available in two sizes (PSD) with a 60 x 80 with a blank white space to fill in your event details.

The poster features Filip who lives with achondroplasia and his mother Alina. Filip also features as one of the three patient testimonial videos filmed for this year’s campaign (coming soon!) Find out more about Filip’s story of living with a rare disease.

The theme for Rare Disease Day 2019 is ‘Bridging health and social care’; this year’s campaign focuses on the need to better coordinate all aspects of care to improve the lives of people living with a rare disease.

Still looking for ways to get involved on the big day? Check out all the different ways you can join in this year’s campaign!

You can also download the official Rare Disease Day logo and other campaign materials to use during your Rare Disease Day activities.




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