UK’s First Mitochondrial Babies Inspire Aussie Hope
The landmark publication today (7 am 17 July, AEST) of reports detailing the successful birth of eight babies in the UK after mitochondrial donation treatment is both a major development in the prevention of mitochondrial disease (mito) – and welcome news for the 120,000 Australians carrying disease-causing DNA variants that put them at risk of passing on this debilitating disease to their offspring.
The two papers published in the prestigious New England Journal of Medicine describe the reproductive and clinical outcomes of the world’s first clinical program in the application of mitochondrial donation. The program was run at the University of Newcastle UK and the Newcastle NHS Trust, and was led by Professor Mary Herbert and Professor Sir Doug Turnbull.
In these papers, the research team report the outcomes of 25 women who were at high risk of passing on disease-causing mitochondrial DNA and underwent mitochondrial donation. At the time of reporting eight babies have been born and there is one ongoing pregnancy. The mitochondrial donation procedure led to all babies having either undetectable or low levels of disease-causing mitochondrial DNA.
Professor Herbert, from both Newcastle University (UK) and Monash University’s Biomedicine Discovery Institute moved to Monash University in 2023 to help establish mitochondrial donation in Australia. This became a possibility in March 2022 when the Australian Senate passed legislation, known as Maeve’s Law, to allow the introduction of mitochondrial donation in Australia.
In Australia, approximately 60 babies born annually will go on to develop disabling and potentially fatal mitochondrial disease. There is no cure for mitochondrial disease and the only treatments available aim to manage the symptoms.
In 2023, the Medical Research Future Fund provided $15 million in funding for the mitoHOPE Program, piloting the introduction of mitochondrial donation into Australian clinical practice. The mitoHOPE Program’s clinical trial will be the first of its kind in Australia to determine the safety and efficacy of mitochondrial donation. Since late 2023, the Monash University team and its partners have been working closely with the National Health and Medical Research Council to gain a licence to train embryologists in mitochondrial donation, as a first step towards a clinical trial and clinical application of mitochondrial donation.
According to Professor John Carroll, Director of Monash’s Biomedicine Discovery Institute and head of mitoHOPE, the studies should give Australia momentum to follow suit.
“We hope to soon obtain our first licence from the NHMRC’s Embryo Research Licensing Committee, so that we can begin training our IVF embryologists in the procedure using donated eggs,” Professor Carroll said.
“The birth of eight babies with a greatly reduced risk of developing mitochondrial DNA disease provides hope for those waiting to access mitochondrial donation and shines new light on the path toward introducing mitochondrial donation in Australia. The mitoHOPE team aims to start recruiting into the clinical trial in about a year, but this is dependent on us gaining the necessary licences.
“The mitoHOPE Program would not exist were it not for the advocacy of the mito community and the funding provided by the Australian Government. We thank them for their continued support of and contribution to the mitoHOPE Program.”
Professor Herbert said the UK results have been a long time in the making. “It was enormously satisfying seeing a procedure that has been developed over two decades result in the birth of babies with a greatly reduced risk of developing mitochondrial DNA disease,” she said.
“The findings published give grounds for optimism. I look forward to continuing this work at Monash University and I hope that the new treatment can soon become available to Australian families affected by these devastating diseases.”
Professor John Christodoulou of Murdoch Children’s Research Institute and co-lead of the mitoHOPE clinical research team said the program is eager to hear from women with mitochondrial DNA disease who may be interested in participating in the clinical trial.
“The results from Newcastle provide considerable impetus to the mitoHOPE Program,” he said. “The clinical research team is working hard with members of the mito community to create the smoothest possible path to the clinical trial.”
The mitoHOPE Program is a research program and clinical trial hosted by Monash University and supported by the Australian Government’s Medical Research Future Fund. The program will pilot the introduction of mitochondrial donation in Australian clinical settings, once approval has been granted by the NHMRC’s Embryo Research Licensing Committee.
“These results give fresh momentum to Australia’s own mitoHOPE research program, which will deliver the world’s second ever clinical trial of mitochondrial donation,” Federal Minister for Health, the Hon Mark Butler MP said.
“The Australian Government is proud to be supporting this research.
“The mitoHOPE Program’s clinical trial will be the first of its kind in Australia, and only the second in the world. Cutting edge research takes time, and all relevant approvals and licences will need to be in place as safeguards before the clinical trial can proceed.”
Professor David Mackey AO is a Professor of Ophthalmology at the Lions Eye Institute and a Chief Investigator on the mitoHOPE Program. He has been studying the mitochondrial eye disease Leber Hereditary Optic Neuropathy (LHON) for 35 years. LHON is a devastating condition in which otherwise healthy people, usually teenagers or young adults, lose their central vision in both eyes due to disease-causing mitochondrial DNA. “Some people with Leber Hereditary Optic Neuropathy describe their stories as being ‘born with a bomb’ and don’t know which children are at risk of losing vision or when this will happen,” he said. “The success of mitochondrial donation shows we can defuse the bomb and allow families to live a normal life. The worry that one of them may suddenly go blind is lifted.”
Sean Murray, CEO of the Mito Foundation and a member of the mitoHOPE Executive Committee, welcomed the publication of the research. “We are now closer to accessing mitochondrial donation for Australians. We are fortunate to have Professor Mary Herbert, who led the scientific program in the UK, now working at Monash University so that Australians will benefit directly from what has been learnt in the UK,” he said.
“Congratulations to the families who have used these innovative techniques to reduce the risk of their children being impacted by mito. From my mito family to yours, thank you for pioneering this important technology.”
WHAT IS MITOCHONDRIAL DONATION
Mitochondria are present in almost all of our cells, providing the energy needed for each organ and tissue to function. Harmful mutations in mitochondrial DNA can result in reduced availability of energy, particularly affecting tissues that have high energy demands – for example heart, muscle and brain, collectively known as mitochondrial DNA disease. Because mitochondrial DNA is maternally inherited, mitochondrial DNA disease is passed from mother to child.
https://www.monash.edu/news/articles/the-uk-report-of-the-first-babies-born-after-mitochondrial-donation-provides-hope-for-australian-families-with-mitochondrial-dna-disease