A mum who lost her daughter to an incurable disease says breakthrough research by Kiwi scientists offers a “huge glimmer of hope” to families like hers.
While it is “bittersweet”, in that it comes too late for Katie Archer, who died in 2018 aged just 9, her mother Lisa Jessup is “rapt” others may one day benefit.
Batten disease is a rare inherited neurodegenerative disorder and children diagnosed with the disease often only live to their teens.
Their brain cells die and they suffer from symptoms similar to epilepsy, blindness, Alzheimer’s and Parkinson’s disease. There is no cure.
* Mum opens up about Batten Disease a year after son’s death
* Woolly thinking a real life-saver
* School pays tribute to former student, raises money for Batten Disease cure
But work being done by scientists at Lincoln and Otago universities could change that, as 20 years’ of research culminates in the first clinical trials in humans.
Katie, from Auckland – the youngest of three – was a “feisty” toddler who was full of life.
At age 3, Katie’s speech started going “backward”. She had her first big seizure and started to fall over.
Tests confirmed Katie had late-infantile Batten disease and the family was referred to the palliative care team. Katie had just turned 4.
Over the coming years, Katie lost her vision and her ability to swallow and talk. She died in 2018, just months before her 10th birthday.
A treatment to slow the disease
Since the early 2000s, a team at Lincoln University in Canterbury including Professor David Palmer, Dr Nadia Mitchell, and Dr Samantha Murray have maintained two flocks of sheep with Batten disease – which naturally occurs in the animals.
The disease, caused by defective genes, progresses faster in sheep than in humans.
Sheep with Batten disease are born clinically normal, but begin to lose their vision at about 6 months. They suffer quickly progressing neurological disease and die before 24 months.
In conjunction with Lincoln, University of Otago Associate Professor Stephanie Hughes developed a specially created vector which carries a copy of the CLN5 gene, to replace the faulty version.
The treatment, an injection carrying healthy copies of the CLN5 gene, is delivered to the brain and eyes of sheep in the hope it can penetrate the cells and slow or stop the effects of the disease.
Sheep given the gene therapy in their trials are living longer – more than five years.
“Excitingly”, their brains stop shrinking and they retain their vision.
“We can essentially halt the disease in sheep, so it’s not a complete cure. However, it may be that we are not seeing the cure playing out fully in sheep, but it could well happen in humans,” Mitchell, a neuroscientist, said.
In September, the researchers received Food and Drug Administration approval for clinical trials in the United States.
The first clinical study is now recruiting children aged 3-8 at the University of Rochester, in New York.
Researchers will closely monitor children for five years after treatment to detect any potential safety issues and assess any effects on their movement, speech, vision or brain function.
When Katie was diagnosed, Jessup looked worldwide for trials, but quickly accepted “what her outcome would be”.
“I’d have done anything if it could’ve helped.”
For research to reach human trials was “bloody awesome”, she said.
It was a “huge glimmer of hope” and a “real fist-pump moment”, Jessup said, telling their story as part of Cure Kids’ annual Red Nose Day appeal.
A Cure Kids fundraising campaign that started in 2012, with help from the Flight of the Conchords, has been pivotal in getting Mitchell and Hughes’ research to this stage, alongside support from the Neurological Foundation, Canterbury Medical Research Foundation and the Batten Disease Support and Research Association.
Mitchell said while it might not be a cure, it could make for a “really effective” treatment.
“It is amazing where they’ve got to. It’s going to change so much for so many families,” Jessup said.
She was grateful for the determination and tenacity of the researchers and those funding it: “I’m really proud. Thank you, from me.”