Australian scientists investigating a rare neurological disorder known as childhood Alzheimer’s believe their research could lead to a new treatment for some dementia sufferers.
Researchers from Melbourne’s Florey Institute of Neuroscience and Mental Health are conducting a pilot study on a range of new drugs, by testing them on skin cells taken from young patients with Niemann Pick Type C (NPC) disease.
NPC disease is a fatal genetic disorder that can strike in childhood, adolescence or adulthood.
Scientist Ya Hui Hung said it was often called “childhood Alzheimer’s” because of the striking similarities between the two diseases and how they affect patients’ brains.
“Niemann Pick Type C disease may potentially hold the key to understanding the mysteries of Alzheimer’s disease,” she said.
“Common to both NPC disease and Alzheimer’s disease is a mishandling of cholesterol and metals in the cells, and what we are hoping for is to target treatments to these two particular pathways inside the cells to achieve an effective treatment of these diseases.”
She said young NPC disease patients had the same abnormal build-up of beta amyloid protein in their brains and “tangles” inside brain cells that was also seen in Alzheimer’s disease patients.
But unlike Alzheimer’s disease which can be triggered by a range of factors, only two genes cause NPC disease, giving researchers a specific target on which to test drugs.
Human trials could be around four years away but early results have been promising.
Researchers believe some of the drugs may be able to reverse the accumulation of cholesterol inside the cells, which hopefully could stop the disease in its tracks.
“What we are really hoping for is to come up with an effective treatment for NPC disease which in turn will hopefully lead to treatment also for Alzheimer’s disease for which there is currently no cure,” Dr Hung said.
Mother’s bombshell discovery of son’s brain disease
Mandy Whitechurch, whose two sons have the disorder, established the Australian NPC Disease Foundation to raise funds for research.
She described the “bombshell” when her then 16-year-old son, Timmy Lloyd, was diagnosed eight years ago.
“On the way home [from the hospital] I can remember being excited thinking, ‘we’ve got a name for this – they’re going to give him a tablet and he’s going to be better, he’s going to be normal’, and then when I got home and did the research… devastation,” she said.
“As a mother, you don’t have your kids to outlive them.”
Ms Whitechurch said she then discovered her older son, Matthew Lloyd, also had the disease when demonstrating how Timmy had failed an eye tracking test, to check for loss of peripheral vision and reduced eye movement.
“We just so happened to use Matthew as an example, and I said this is what Timmy was doing… he was following the finger [moving up and down and side to side] and he had to lift his head up – and Matthew did exactly the same thing,” she said.
“As soon as I saw that, it just added up a lot of Matthew’s socially inappropriate behaviour, what was thought to be attention deficit disorder – it all added up and I couldn’t believe what I was seeing.”
She said while NPC disease only affected one in 150,000 people, she did not realise that once she had one child with the disease, the odds shortened to one in four.
Both her sons may now have only two more years to live.
“You’re meant to look forward to your kids’ birthdays and Christmases and calendar events… I don’t at all,” Ms Whitechurch said.
“Another birthday means another year, another Christmas means a year [closer to being] without them.”
Ms Whitechurch said her sons suffered from memory loss, and impaired speech and cognitive function.
Timmy also struggles with walking, swallowing and fine motor control, while Matthew is prone to mood swings.
“He looks at himself, he’s 27 years old and he wants to be like his other mates that he used to have and that we don’t really see very much any more and that makes him really angry,” she said of Matthew.
“It has really robbed him… he lost his driving licence, his apprenticeship… the older kids that get this lose everything that they’ve gained in life.
“They know that (NPC disease) is going to take their life early but they can’t foresee it.”
NPC an ‘under-diagnosed, chameleon disease’
Neuropsychiatrist at the Royal Melbourne Hospital, Mark Walterfang, is treating the Lloyd brothers and about half of Australia’s estimated 25 patients with NPC disease.
Associate Professor Walterfang said NPC disease was frequently under-diagnosed because “it’s a bit of a chameleon” and can have the same symptoms as other disorders, such as psychiatric illness in young adults.
“They’re often just on the cusp of working, starting relationships and then they will often start to decline,” he said.
“Their parents are dealing with their future being taken away from them and really watching their children struggle with a fatal neuro-degenerative illness, the sort of thing we’re used to thinking about in much older patients.”
Associate Professor Walterfang hoped the research would find something that would not just slow the disease but potentially halt it.
“Certainly for us, the overlap between NPC and Alzheimer’s disease is quite exciting… by finding something for a rare disorder we may actually find a novel treatment for a much more common disorder that costs the Australian community so much,” he said.
Associate Professor Walterfang said he was also impressed by the “remarkable” fundraising efforts of the Australian NPC Disease Foundation and affected families to help keep the research afloat.
While the study is funded by a $50,000 grant from the University of Pennsylvania, around $146,000 raised by the foundation effectively paid for a full-time scientist and the cost and upkeep of the laboratory mice.
“It has largely been driven by a couple of small families who have had more than one child affected by this illness,” he said.
“What I’m so thankful for is that Mandy and other families that we’ve been involved in have been able to turn what’s really an awful experience of a devastating illness into something that’s positive – but not just for them potentially, for other patients and potentially for the broader Australian community.
“It may be that unlocking some of the secrets of NPC, particularly to do with cholesterol, with metal metabolism, with tau (protein) processing and other things that we see within the cells, that we may actually find a key to Alzheimer’s disease which has thus far eluded us.”