Vertigo drug trial helping patients with ‘childhood Alzheimer’s’

There is currently limited treatment for Niemann-Pick type C disease (NP-C) - a rare and debilitating genetic condition that affects memory and motor skills and can cause seizures and dementia.

But a new, landmark study is giving hope to those living with the fatal condition after it found a drug called N-acetyl-l-leucine (NALL) may help.

"This study is incredibly exciting because we were able to demonstrate significant improvements in our patients’ neurological function in a relatively short space of time,” said Professor Mark Walterfang, a consultant neuropsychiatrist at the Royal Melbourne Hospital (RMH).

NP-C is caused by an abnormal build-up of cholesterol in the body’s cells, particularly in the brain.

About 25 people in Australia live with the condition, which is also known as ‘childhood Alzheimer’s’ but can affect people of all ages.

The multi-centre study used a form of NALL that is powdered and mixed with water, much like a sports drink. Another form of the drug has been approved and used overseas for treating vertigo for decades.

For two 12-week blocks, about 60 patients aged five to 67 were given NALL or a placebo and vice versa.

Their coordination – a key marker for people with NP-C – was then measured using a scale known as the SARA (Scale for the Assessment and Rating of Ataxia). Remarkably, researchers found that when treated with NALL, participants showed significantly better function on the SARA than when they received the placebo.

The trial was conducted at 13 hospitals around the globe, including in Germany, Switzerland, the UK and the USA. The findings were published in the prestigious New England Journal of Medicine (NEJM) this month.

Prof Walterfang led the Melbourne arm of the study at the RMH and said the results were “an exciting step forward” for NP-C research. He added that he was hopeful the drug may one day be used to treat other disorders, such as Alzheimer’s disease and brain trauma.

“NALL is a very interesting and unique compound. It seems to improve co-ordination not just in NPC, but in a range of other disorders known as the ataxias, where patients have great difficulty with motor co-ordination,” he said.

“It does this by improving glucose metabolism in key areas of the brain, but also slows the loss of neurons, and reduces inflammation in the brain in some neurological disorders. As a result, it may well show benefits in a range of neurodegenerative disorders beyond N-PC, including other forms of dementia and traumatic brain injury.”

Prof Walterfang added: “Sometimes, finding a treatment for rare disorders such as N-PC can open up new avenues of treatment possibility for more common disorders that affect many Australians, and we are excited to see where NALL may take us.”

AUTUMN TAKES THE CAKE

Autumn Hodgson was always an active kid. She loved karate, dancing, singing and was the “entertainer of the family”.

“She was wild and crazy,” Mum Amanda recalled with affection.

But a few years ago, in her mid teens, things began to change.

“Just prior to COVID we noticed that she’d started to walk differently – quite often she’d be talking and would be slurring her words,” Amanda said.

At the recommendation of her school, Autumn went to see a specialist neurologist at the Royal Children's Hospital. They delivered the heartbreaking news that she had Niemann-Pick Type C (NP-C).

Autumn took part in the Melbourne arm of the international study here at the RMH.

Amanda said it was incredible to compare her daughter’s coordination before and during the trial.

“It was a dramatic change,” she said. “Things like she was using her utensils at the table, less fatigued, her walking and fine motor skills had improved.”

A major milestone for Autumn was competing in the 100m race at her school athletics carnival.

“The previous year autumn had decided to run 100m at the school carnival. You could see how challenging it was,” Amanda said.

Unbeknown to Autumn, her school peers decided to dress up in costumes that also made it harder for them to run.

“Once she’d been on the trial, she decided again to run it and you could definitely see the changes mechanically. Even just the stamina and breathing,” Amanda said.

“She ended up getting a first place!”

Being on NALL helped enable Autumn to finish year 12 and follow her dreams of studying a certificate 3 in patisserie, which she started this year.

“It’s hard… but it’s great the fact that I’m learning,” Autumn said.

“I love baking because there are no limits to it – that’s so cool.”

And her specialty?

“Her red velvet cake is a hit – particularly with the neighbours,” Amanda said.