New trial offers hope to families affected by mitochondrial disease

An Australian first trial is set to offer hope to hundreds of families affected by mitochondrial disease.

Led by Monash University in collaboration with Murdoch Children’s Research Institute, a clinical trial of mitochondrial donation has been awarded a $15 million grant from the Medical Research Future Fund. 

About 50 Australian children are born every year with mitochondrial disease, with an expected lifespan of five years. But mitochondrial donation has the potential to prevent children from being born with the disease.

Mitochondria are the power houses of the cell, providing the body with over 90 per cent of the energy it needs to sustain life. When the mitochondria are not working properly, cells begin to die until eventually, whole organ systems fail.

A key focus of the pilot study is to determine the safety, efficacy and feasibility of using mitochondrial donation reproductive technology in Australia. The project aims to assist women to have biological children who do not inherit the predisposition to mitochondrial disease and will help determine the best way to offer mitochondrial donation to Australian women with the disease.

The mitoHOPE (Healthy Outcomes Pilot and Evaluation) Program, includes mitochondrial experts and clinical geneticists from Murdoch Children’s, fertility specialists and clinical embryologists from Monash IVF working together with reproductive scientists from Monash University and the University of Adelaide. The consortium is led by Professor John Carroll, Director of the Monash Biomedicine Discovery Institute (BDI) and an expert in mitochondrial activity in egg and embryo development.

“The entire mitoHOPE team is committed to making this a success for all families who have mitochondrial genetic disease. The Mito Foundation first introduced me to families who have experienced this devastating disease, often over generations, and ever since it has been a priority to ensure we can deliver mitochondrial donation in Australia,” Professor Carroll said.

Murdoch Children’s Professor David Thorburn said the cutting-edge therapy had the potential to provide new treatments for the debilitating disease.

“Our researchers will play a crucial role in the trial by recruiting patients and advancing our understanding of the genetics and underlying mechanisms of mitochondrial disease,” he said. "If successful, the technology could offer hope to families affected by the disease, potentially leading to better quality of life.”

Murdoch Children’s Professor John Christodoulou said often fatal, mitochondrial disease could affect single organs or whole-body systems resulting in a spectrum of symptoms and syndromes.

“Because these diseases are caused by genetic errors, there is no cure,” he said. "Almost all existing treatments do not delay disease progression and most children with mitochondrial disease die before adulthood. This trial will allow eligible women to use assisted reproductive technology to improve their chances of having healthy children.”

Monash IVF Group Chief Scientific Officer Associate Professor Deirdre Zander-Fox said; “mitochondrial donation cannot cure people with existing mitochondrial disease or prevent mitochondrial disease caused by mutations in an individual's nuclear DNA, but it can help minimise the risk of a child inheriting mitochondrial disease from their mother with the help of IVF.”

Mito Foundation CEO Sean Murray said if successful, “the mitoHOPE Program will allow members of the Australian mito community to have their own biological children free from mito. For some families, this will end generations of devastation from the impacts of mito. The mitoHOPE Program is a beacon of hope for the Australian mito community.”

Find out more information on the program or register your interest today.