Patients pass on the baton for MND

Judy Featherstone never met fellow Motor Neurone Disease patient Dr Angela Worthington before she passed away in February 2020.

But the doctor’s enduring legacy is now offering Judy a new chance to “beat the beast” head on.

A respected Australian cardiologist, Dr Worthington’s dying wish was to establish a new research position for MND, the devastating and fatal disease that impacts 1 in 472 Australian women in their lifetime, and 1 in 350 men.

With her body rapidly unravelling, unable to walk or talk and confined to a wheelchair, Dr Worthington used eye-gaze tracking technology to convey her wish to her loved ones, to donate her brain to scientific research and fund a new research position for MND.

Medical colleagues, friends, family and her fellow cardiologists rallied to raise nearly $70,000 in just four weeks. This was matched with $30,000 from MND Research Institute Australia to develop a competitive grant and a few months later, the grant was awarded to Irish-born Neurologist Dr Colin Mahoney.

Described by the University of Sydney as “an exceptional early-career researcher” , Dr Mahoney has also been a recipient of one of the university’s 10 prestigious international postdoctoral fellowships following a global search for outstanding applicants focused on tackling “the greatest challenges of our time.”

Gold: the promise of neuroprotective therapies

It was in March 2020, as a confused world came to grips with the unfolding COVID-19 crisis, that Dr Mahoney quietly began enrolling patients in a new human trial for MND called Rescue ALS, at the University of Sydney's Brain and Mind Centre.

The trial involved the use of a novel gold nanoparticle protocol for MND (which is also known as Amyotrophic Lateral Sclerosis or ALS in some countries).

Early animal studies in 2019 found gold nanocrystals to be neuroprotective, reducing the loss of nerve cells and improving the function of remaining cells.

It’s thought this helps increase energy production in cells and reduce oxidative stress which in turn may slow down the clinical impact of MND, (which causes a progressive inability to talk, walk and breathe).

Gold also has important anti-inflammatory properties, frequently used in conditions such as rheumatoid arthritis and prostate cancer. And unlike many medications, this new formulation of gold can successfully cross the blood-brain barrier.

“I must admit that at the start of lockdown it was very hard to get a clinical trial up and going,” says Dr Mahoney.

“But we enrolled 45 patients form across NSW and South Australia  and the one good thing about COVID-19, is that it has spurned  a new era of multi-arm drug trials. So instead of trialling one drug we can do many more at the same time and ultimately this will speed up the time it takes to find medicines to slow, stop or reverse the progression of MND. A cure for the genetic forms of MND is close, probably 3 years away, and we are hoping for a cure for the sporadic form (90% of patients) within the decade.”

Judy, who has been part of the trial for 12 months, does not know if she was on the active arm of the trial or the placebo arm for the first nine months.

However, in recent months all participants in the blinded phase of the trials were offered the active drug, after combined results on the first 42 patients showed a slowing in progression of the disease for some. Some patients even had an improvement in function from baseline.

“These studies are early but very encouraging because it suggests that improving cellular bioenergetics may have neuro protective affects,” says Dr Mahoney.

The next big question

“Of course, we can’t hold our breath until top line results are out at the end of this year. If the study shows no clear difference between the placebo arm and the active arms, the treatment won’t be what we are all hoping for. However, if the improvements are shown to be in the active treatment arms this could potentially represent a new paradigm in the treatment of MND.”

The world-first human trial  - a joint project with chief investigators Dr William Huynh from the BMC and Associate Professor Parvathi Menon at Westmead Hospital; FightMND and Clene Nanomedicine -  was extended in late 2020 to include other global MND centres and institutions such as Massachusetts General Hospital and Harvard University.

With the additional support from MNDRIA's Angela Worthington Award, Dr Mahoney and his team will be able to cast their net wider, with funding for an additional 70 to 80 people to participate in a further study.

Living with MND

For Judy and her husband Don, living with MND involves at least six to eight medical appointments a month, and multidisciplinary care with her neurologist, occupational therapist, exercise physiologist, speech pathologist, neurology specialist nurse, respiratory physician and dietitian to increase kJ intake.

But despite Judy’s devastating diagnosis, neither has lost their sense of humour.

“You always need to be one step ahead of the disease,” says Don.

“As MND causes a lot of word slurring that can be tricky to understand, we decided early on to do “voice banking”. This is  where we “bank” about 250 words and 20 key phrases. Then Judy can just play the relevant phase on her iPad when she needs them and can create her own sentences. So, Judy recorded all the important messages in life in her lovely Sussex accent.

“Her favourite of course is ‘get me a gin and tonic please Don!’”

Judy also jokes that MND is ‘the only disease’ where doctors encourage you to eat as many chips and chocolate as your like, with a high protein, high KJ diet linked to improved survival outcomes and better quality of life. She exercises several days a week, which includes Feldenkrais, gym and walking. She also spends many active hours with her 6 grandchildren, and reads, listens to music plays piano and does jigsaws.

“I feel so privileged to have such a wonderful husband and family, and such world-class multidisciplinary care in Colin and his team. This a very big part of living well with MND.

“Getting a diagnosis like this is dreadful for anyone. But a lot of it comes down to your attitude. You can sit in a chair and get depressed or treat every day as a gift. I’ve accepted that what will happen will happen, but I’m not ready to give up. Being on a clinical trial may or may not help me but I hope it may help others in the future.

“Just like Dr Worthington, we cannot let the things we can’t do, prevent us from doing the things we can.”