Mitochondrial Donation Pilot Project Announced!

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What is mitochondrial donation?

Mitochondrial donation is an IVF-based technique that offers real hope for families with certain forms of mito to have healthy children of their own.

Eligible Australian women with a genetic diagnosis of mitochondrial DNA disease will soon have access to mitochondrial donation under clinical trial conditions. The technique involves removing the nuclear DNA from a patient’s egg containing faulty mitochondria and inserting it into a healthy donor egg, which has had its nuclear DNA removed.

As the nuclear DNA is retained, the unique genetic information (that makes us who we are and determines what we look like) is passed on from mother to child, but the mitochondrial defects are not.

mitoHOPE — Mitochondrial Donation Pilot Project

On 2 March 2023, the Australian Government announced that a Monash University led project team will receive $15 million to conduct a pilot program for mitochondrial donation. This funding has been awarded from Australia’s Medical Research Future Fund (MRFF). The project has been named mitoHOPE, with an initial website created as the project is being established.

The program will include a clinical trial to build evidence of the safety, efficacy and feasibility of implementing mitochondrial donation in clinical practice settings. It will also include a research program to refine and improve the techniques available.

The mitoHOPE team closely considered Our Voice: Mito community priorities for the Australian mitochondrial donation pilot when developing the grant application. Mito Foundation is confident the proposed pilot is on track to meet the needs of the mito community. As a partner in this project, Mito Foundation looks forward to collaborating with Monash University, Monash IVF, Murdoch Children’s Research Institute, and other partner organisations.

The Australian Government has also created the licensing scheme and ethical guidelines, both important foundations for the pilot stage.

Mito Foundation has been working with researchers to influence the design of the pilot stage to ensure that it meets the needs of the mito community. This includes when people from around Australia will be able to access mitochondrial donation and how the clinical trial will work with other health care services. We're also identifying ways the mito community can be directly involved in designing how the pilot will work.

If you or anyone you know would like to register your interest in the pilot program please visit the mitoHOPE website.

Visit the mitoHOPE website

Legislation Change

The Mitochondrial Donation Law Reform (Maeve’s Law) Bill 2021 was passed in the Senate on Wednesday 30 March 2022. This marked a historic moment for the Australian parliament and an enormous milestone for the mito community.

The passage of Maeve’s Law is the culmination of many years of advocacy and an inspiring example of the mito community working together. We thank all families who bravely shared their personal stories, met with parliamentarians and made heartfelt submissions. Your courage and tenacity made this milestone possible.

Read more about the journey to legalise mitochondrial donation.

The Road to Legalising Mitochondrial Donation

What impact will mitochondrial donation have?

Mitochondrial donation will allow impacted Australians to have genetically related children without the risk of them inheriting mitochondrial DNA defects which will drastically limit their life.

An estimated 56 babies born each year in Australia could potentially be saved from inheriting mitochondrial disease.

Aside from the devastating physical and emotional impact on patients and their families, many patients have repeated and prolonged hospital visits, are unable to work and may need full-time care. By protecting the next generation from mitochondrial disease, mitochondrial donation will have positive economic impact by removing this reliance on community, healthcare and social services systems.

These stories highlight the impact on real Australians:

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Maeve

Maeve's Law is named after five-year-old Maeve who lives with Leigh syndrome. Her parents are proud that her life will have even more meaning by helping to prevent other Australian families from passing mito onto their children.

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Maeve's Story

At five months old, Maeve developed bronchiolitis and she ended up in ICU for a week. She was having trouble feeding and had to be fed via a feeding tube.

After that, her development seemed to flatline. She continued to have trouble feeding and wasn’t putting on weight. Being my third child, I could tell Maeve wasn’t developing at the same rate as her older sisters, Olive and Isla. It became obvious she was lagging developmentally.

After watching her decline before our eyes, we were desperate to find some answers and fought hard to get her an MRI scan. She was eventually diagnosed with Leigh syndrome, a severe mitochondrial disorder, at 18 months old.

We were told that her maximum life expectancy is about 10 years. But we try not to think about the numbers. Our focus is on being positive and creating as many memories with our family as possible.

Maeve is now five years old and every day with her is a blessing. She can’t walk unaided; she uses leg braces and specially made shoes that allow her to walk small distances without a walker. Maeve can’t really talk, but she’ll point to things, and she can say a handful of words. There is a gradual decline with Leigh's, and most likely it will be one of her major organs that will fail.

But Maeve is lively and so happy. She has a beautiful energy that draws people to her. She just wants to give people hugs all the time!

We are proud to lend her name to the Mitochondrial Donation Law Reform Bill. Maeve’s life will have even more meaning by helping to prevent other Australian families from passing mito onto their children.

Shelley Beverley

Shelley

Shelley had never heard of mitochondrial disease until 3 years ago - when her mother experienced a rapid decline in health.

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Shelley's Story

Shelley had never heard of mitochondrial disease until 3 years ago, when her mother experienced a rapid decline in health and passed away within months. Her brother passed away less than 18 months later, just weeks before his 35th birthday. It was found that both had mitochondrial disorders.

After genetic testing, Shelley was diagnosed with MELAS (Mitochondrial enchephalomyopathy, lactic acidosis and stroke-like symptoms). Currently she experiences hearing loss, hypertension and a heart condition which puts her at high risk of heart failure due to the family history. She has mitochondrial diabetes, muscle weakness and exercise intolerance. With such varied symptoms, Shelley’s life is filled with appointments with eight different specialists.

Shelley says “Mitochondrial disease has taken away half of my family, and left me fearing for my own future and for my partner. I am devastated that this disease could take away the opportunity to have our own biological child. I truly appreciate and value the traits I inherited from my mum and often look in the mirror to reflect what part of me belongs with her. I want this for my own child.”

Shelley’s partner, James says “if anything were to happen to Shelley, I want her special qualities to live on in our children. Mitochondrial donation would enable us to have our own biological child, free from mitochondrial disease. The harsh reality is, we have been ready to start a family for some time and our time is running out fast.”

The Beard Family

The Beard Family

In May 1997 everything changed for the Beard family when their daughter, Pippa, woke up in severe pain, unable to move.

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The Beards' Story

At 19 years old, Pippa Beard awoke one day in severe pain and could not walk. She spent one month in hospital and was initially diagnosed with fibromyalgia (a form of chronic fatigue) and required intensive rehabilitation to learn to walk again.

Six months later, she woke screaming with temporary blindness followed by multiple seizures. On her twenty-first birthday, Pippa suffered a complete nervous breakdown with frightening hallucinations.

As no two episodes were the same, and the range of symptoms so unique (which is characteristic of mito), a long road to diagnosis followed. Eventually, Pippa and her mum Rely both had muscle biopsies and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) a maternally inherited form of mito, was confirmed.

The family spent the next couple of years in and out of hospital, often staying for weeks or months at a time. Several times, Pippa was placed in an induced coma and on life support when the seizures became uncontrollable.

Pippa’s sister Toby was later tested and diagnosed with MELAS. Although she only experiences mild symptoms, Toby now faces her most difficult decision yet - whether or not to have her own biological children. As MELAS is maternally inherited, this could severely limit her child’s life.

After initially being given a maximum of 12 months to live, Pippa proved to be an inspiration and bravely fought MELAS for 22 years. The last 12 months of her life were incredibly tough and she endured several stroke-like episodes, gut and bowel issues and declining cognitive function. She defied the medical experts so many times. Pippa’s brave fight continued until she died at home on February 4th 2020 with a team of incredibly loving and dedicated family and friends around her.

Pam Hausler

Pam

Pam was diagnosed with MELAS, a maternally inherited form of mito, in her mid-forties.

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Pam's Story

Pam was diagnosed with MELAS, a maternally inherited form of mito, in her mid-forties.

It has impacted her greatly throughout her life and today she struggles with balance issues, exercise intolerance. regulating body temperature and a constant lack of energy.

As an infant, Pam’s daughter Shayli was described as having a-typical cerebral palsy, a description often used before mitochondrial disease was recognised. She was never able to speak properly and relied on a wheelchair. At 14, Shayli had her first stroke-like episode and was in and out of the Adelaide Children’s Hospital over the following five years. She lost partial vision after one of the stroke-like episodes, had seizures for 12 days and went into a coma for a while.

Shayli eventually went blind and her hearing became so sensitive that she could not bear her favourite pop music or even her dog. She was tested for everything known at that time, but all tests came up blank. She was eventually diagnosed with MELAS at 19 and sadly died three weeks later.

Pam’s mother also died of mito, and her grandmother's sisters all died young as a result of the disease.

Mitochondrial disease has impacted many generations of Pam’s family and she sees mitochondrial donation as a necessary step to prevent other families enduring this devastating pain in future generations.

Pam said “if mitochondrial donation existed when I conceived my daughter then she would still be alive, and she would have had the opportunity to have disease-free children of her own.”

News and Updates

Links and Resources

Mitocohondrial Donation Resources

The Science Behind Mitochondrial Donation

The Health Economics of Mitochondrial Donation

The National Health and Medical Research Council (NHMRC)