David Thorburn
Co-Group Leader of Brain & Mitochondrial Research at Murdoch Children's Research Institute and the University of Melbourne.
Mitochondrial donation was legalised in the UK in 2015 and in Australia in 2022. It was clearly a complex process in the UK to develop the approvals processes, the clinical and lab pathways, cope with delays from COVID-19 and accumulate sufficient outcomes to publish them without impinging on the privacy of the families involved.
So it is very exciting to see the first publications describing results for the first eight babies born in the UK program. The initial results demonstrate that the approach is effective in reducing the risk of having a child with mitochondrial DNA disease for women who are at high risk. For about three quarters of couples participating in the pronuclear transfer method, at least one suitable embryo was generated. About 40% of these couples had a baby and all were healthy and had undetectable or low levels of the abnormal mitochondrial DNA. Three babies had short-term symptoms that resolved and did not appear to relate to mitochondrial disease. All babies are developing normally to date, with the oldest 5 years of age.
The studies emphasise that longer-term followup needs to be performed, and the efficiency of the method could be further improved to achieve higher pregnancy rates. They demonstrate the value of offering the program in conjunction with other reproductive options, such as pre-implantation genetic testing, which can be effective in women with lower risk. I regard these results as very encouraging and supporting the ongoing development and use of mitochondrial donation in the UK and Australia.