Mitochondrial Donation – UK Results and What’s Next

• The Mito Foundation is hosting a webinar on mitochondrial donation, discussing progress in the UK and Australia, and the recent publication of results from the UK program, which showed that eight babies have been born using mitochondrial donation, all of whom are developing normally 00:07:14
• Mitochondrial donation is an IVF-based technique that allows the use of a donor egg’s healthy mitochondria combined with the nuclear DNA from the two parents, which may be an option for mothers with disease-causing changes in their mitochondrial DNA 00:06:32
• The UK team is excited about the release of results on mitochondrial donation and is willing to work closely with the Australian team to improve the treatment and provide more options for women with mitochondrial DNA changes 00:13:20
• Professor Mary Herbert, a leader of mitochondrial donation in the UK, explained that mitochondrial donation involves transplanting the nuclear genome from a woman with mitochondrial DNA changes into a donor egg with healthy mitochondria, and it can reduce the risk of transmitting mitochondrial disease to children 00:24:30
• There are two treatments to reduce transmission of disease causing changes in mitochondrial DNA: pre-implantation genetic testing (PGT) and mitochondrial donation, with PGT an option for women with low to moderate levels of mtDNA changes and mitochondrial donation an option for women with high levels of mtDNA changes 00:22:15
• Professor John Christodoulou, who is leading the clinical stream of mitoHOPE, explained that mitochondrial donation is an option for women with high levels of mtDNA changes, as PGT may be unreliable in such cases, and the goal is to reduce the risk of passing on mitochondrial disease to their children 00:41:50
• The UK program has shown promising results, with the majority of babies born having very low levels of changed mitochondrial DNA. Long-term follow-up is critical to monitor the babies’ development and mitochondrial DNA levels 00:45:27
• The Australian program aims to build on the UK experience, addressing the risk of reversion to maternal mitochondrial DNA and exploring different techniques, such as spindle transfer, to improve the success of mitochondrial donation 00:49:02
• Women interested in mitochondrial donation should register their interest and undergo genetic testing to confirm their condition is due to a mitochondrial DNA change, and the mitoHOPE program is expected to begin recruiting women and couples into the study by the middle of next year 00:57:53
• Professor Sir Doug Turnbull, a leader of mitochondrial donation in the UK, shared his thoughts on the milestone achieved by the UK mito community, stating that it provides a new reproductive option for women with mitochondrial DNA changes and has shown that mitochondrial donation is a viable and effective risk reduction strategy 00:10:36

Additional Q&A from the event

During the event, there wasn’t time to answer every question. We followed up with Professor Mary Herbert and Professor John Christodoulou, who kindly shared their answers afterwards. You can read them below.

Q: I am a female in my 20s with a history of mitochondrial disease caused by changes in mitochondrial DNA in my family. I am not ready to have children yet. What can I do to increase my chances of success if I choose mitochondrial donation in the future? 

We’ve put together a list of things you can consider doing to ‘get ready’ for mitochondrial donation. This is available here: www.mito.org.au/mitochondrial-donation/#waiting 

Many of these would apply to you, including talking to your health professionals about your fertility and the option of freezing your eggs. Contact the Mito Foundation if you need help to find a clinical genetics service near you. 

Q: In the UK program, were the levels of maternal mtDNA tested immediately after birth? Were the tests repeated and will they continue to be measured in the future? 

Yes, the levels of mtDNA variants were measured when the babies were born. This was done through both blood and urine samples. Five of the eight children had undetectable levels. Three babies had levels below what is known to cause signs and symptoms of mito. The UK research articles did not include results of any measurements taken as the babies got older, but we understand these are being taken and will be published in the future. 

Q: The webinar described how mitochondrial donation is particularly relevant to women who have high levels of mitochondrial DNA changes. If someone is classed as having a ‘lower’ mutation load, can they choose to use mitochondrial donation over pre-implantation genetic testing (PGT) ? 

Mitochondrial donation has been approved for use in Australia under very specific conditions. Each family using mitochondrial donation will need to be approved by Australia’s Embryo Research Licensing Committee (ERLC). We expect that the ERLC is likely to only approve mitochondrial donation when other reproductive techniques are unsuitable. We are not sure whether this committee will consider family choice and it may depend on their specific circumstances. 

PGT is a well-established procedure and is effective in reducing risk of disease in children. Results from the UK suggest it has a higher chance of leading to a pregnancy than mitochondrial donation.  

Q: How far behind original plans is Australia’s mitoHOPE pilot program? When can we expect the program to be ready? 

The mitoHOPE program originally had plan that estimated that the clinical trial would recruit its first patient in mid 2024. Our current best estimate is that this will instead be in mid to late 2026. This is a significant delay. 

The biggest reason for the delay is that this is the first time the new regulations for mitochondrial donation are being used. The regulatory process has been slower than any of us hoped. But we are making steady progress. 

 Q: What costs are involved in IVF based options for building my family? What costs apply to participating in mitoHOPE? 

Pre-implantation genetic testing is available in Australia through some IVF providers. However, not all costs are covered by Medicare, often resulting in many thousands of dollars in out of pockets costs for each IVF cycle. 

Mito Foundation understands that the mitoHOPE program will cover the costs of mitochondrial donation within the pilot program, including travel to the IVF clinic. 

 Q: Will the mitoHOPE project be accessible to people in regional areas? 

Yes. The mitoHOPE program has been designed to provide access around Australia, particularly through its wide network of clinical geneticists and Monash IVF clinics around Australia. The program will also provide travel assistance and use telehealth services when possible. 

Related resources:

• Mitochondrial donation
• Mitochondrial donation in the UK – update
• Options for building your family
• The mitoHOPE website

If you need to talk to someone:

• Lifeline call 13 11 14 or text 0477 13 11 14
• Beyond Blue call 1300 22 4636
• 13YARN (Support for Aboriginal & Torres Strait Islander Peoples) call 13 92 76
• National Perinatal Mental Health Helpline call 1300 726 306