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Mitochondrial Augmentation Therapy (MAT)

What is MAT?

MAT is a cell therapy that is currently being investigated as a potential treatment for a specific form of sporadic (non-inherited) mitochondrial disease called Pearson Syndrome. The study is being conducted by a company called Minovia Therapeutics in collaboration with Astellas Pharma Inc.

How does it work?

MAT for the treatment of non-inherited mitochondrial diseases such as Pearson Syndrome involves extracting mitochondria from blood cells collected from the unaffected mother of the patient. The healthy mitochondria are then incubated with stem cells that have been collected from the patient and have the ability to develop into blood cells. The enriched stem cells are returned to the patient by intravenous infusion, which involves delivering the stem cells directly into the bloodstream.

What is it supposed to do?

MAT is supposed to increase the number of healthy mitochondria within cells, which could improve energy levels and reduce some of the symptoms of mitochondrial disease.

Is it a cure?

It is believed that a single treatment of MAT could increase the number of healthy mitochondria within cells whilst also removing the damaged mitochondria through a process called ‘mitophagy’. This would reduce the number of mitochondria carrying the underlying genetic defect causing the mitochondrial disease, leading to an improvement in symptoms.

What types of mitochondrial disease could it treat?

MAT could be used to treat sporadic (non-inherited) mitochondrial diseases that are caused by deletions in the mitochondrial genome, including Pearson Syndrome and Kearns-Sayre Syndrome (KSS). MAT also has the potential to treat mitochondrial diseases that are caused by other genetic mutations in the mitochondrial genome, such as MELAS, LHON and NARP. As these mitochondrial diseases are inherited from the mother, it is likely that healthy mitochondria will be required from a donor (and not the mother) for treatment.

Have there been any trials of MAT?

Three children with Pearson Syndrome and one patient with KSS received treatment with MAT in 2019 under a compassionate use programme. The clinical improvement seen in these patients led to a phase 1/2 clinical trial of MAT for the treatment of Pearson Syndrome. The trial is an open label, single dose clinical study to evaluate the safety and therapeutic effects of MAT in 7 paediatric patients with Pearson Syndrome and is currently enrolling by invitation.

There is also a study to evaluate the safety of a single MAT treatment in patients with primary mitochondrial disease caused by mutations or deletions in the mitochondrial genome. This is a first in human phase I, open label dose-escalation study that aims to evaluate the safety of MAT in 6 participants with mitochondrial disease but is not yet open to recruitment.

Other news

MAT has been granted fast-track, orphan drug and rare pediatric disease designations by the U.S. Food and Drug Administration. This aims to advance both the evaluation and development of any investigational treatment that has the potential to treat rare diseases.

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