A world-first treatment from New Zealand researchers for Batten disease – a rare but lethal genetic disorder – is for the first time moving to human trials
When Katie Archer was about four years old, she started going backwards.
She’d been falling over a lot when previously she’d been able to walk.
Then the seizures started. Katie’s mum Lisa Jessup was told it was likely early childhood epilepsy, something that affects around one in 200 children.
But things didn’t stop there – Katie started to lose her speech.
That’s when doctors started doing more tests, leading to Jessup being given a lifetime’s worth of bad news in one day.
Katie was diagnosed with Batten Disease, a rare fatal genetic disorder that causes a child’s brain to stop working bit-by-bit due to the inability of neurons to deal with build-ups of fat and waste material.
There are 13 types of Batten Disease, and with Katie’s particular form, doctors put low odds on her living into her teen years.
At that point, the crux of the advice doctors could give was just to enjoy every moment.
In 2018, when Katie was 10 years old, she died at home with her mum by her side.
It’s a disease carried by around 100 New Zealanders, with the potential for multiple cases to be concentrated within one family. Its inherited element plus the late onset of symptoms and a lack of at-birth screening means siblings have often already arrived before a diagnosis - who then have their own one in four chance of having the disease.
And with no cure, there’s historically been little hope for the families receiving that bombshell.
But things may be turning - a group of researchers from Lincoln University and the University of Otago with funding from CureKids have just had human trials accepted by the US FDA for a gene therapy treatment that has extended the lives and livelihoods of sheep with the disease.
“Bless the sheep,” said Jessup, excited to see a future where families with the same luck as hers have more options on the table.
“It could be they won't have to go through what Katie went through,” she said. “If there had been something like this with Katie even in a trial stage we'd have been all over it. We’d have gone anywhere to have that glimmer of hope and now it’s a real possibility.”
The world-first clinical study is currently recruiting at the University of Rochester in the United States, and will see participants of three to eight years old followed for five years to assess symptom development after they are injected with the missing protein that characterises the disease.
University of Otago associate professor and researcher Stephanie Hughes said it was the sort of thing you only dream of as a scientist.
“It’s incredibly significant because there has been no treatment for this disease until now,” she said.
Although the trials only deal with CL5 - one of the 13 variants of Batten disease - she believes after the “big leap” from animals to humans it should be applicable for other forms.
“In terms of going forward, this treatment is for one form of the disease, it should be applicable for quite a few of the others,” she said. “The hope is one day you can just give a pill or an injection to treat it.”
The root cause of the body malfunctions experienced by those with the disease comes down to lysosomes - an organelle within the cell that breaks down excess or worn-out parts of the cell and recycles them for further growth.
In many of the body’s cells, malfunctioning lysosomes are compensated for by the replacement of cells wholesale.
But in the brain, irreplaceable neurons need to run for a lifetime.
Hence the degeneration of the brain tissue, and the ensuing loss of vision, co-ordination, and language.
The jump to human trials has been a long time coming, with research funded since 2012 by child health researchers Cure Kids.
The news comes as the organisation wraps up last week’s Red Nose Day, along with a number of events across schools and businesses throughout New Zealand during July raising funds and awareness for health issues that affect children.
Cure Kids CEO Frances Benge said the research breakthrough provides hope for the future.
“It's absolutely fantastic and a credit to New Zealand that their generosity through the annual Red Nose campaign has really enabled this research for families that up until today haven't had any hope - but now there's hope on the horizon,” she said. “I can't emphasise enough how important that research is.”
Cure Kids is the largest funder of research for children’s health outside of the Government, which Benge would like to see play a more active role in funding.
“We're filling a bit of a gap here,” she said. “Some of these research projects can take a long period of time and research projects often need more funding.”
Despite this she said New Zealanders had been very giving and enabled charities like Cure Kids to keep the lights on for these kinds of research projects.
Over the years, the research team have maintained a relationship with families affected by the disease, inviting them down to Lincoln University to show them their progress through the years.
Jessup said now there’s a real feeling of elation and relief that something is coming from it, as people down the road affected by the disease find reason to have hope.
“They will have the option to have this treatment, depending on how the trials go,” she said. “The child won't have a death sentence. They’ll have hope.”
