Cure Kids is celebrating this year’s Red Nose Day Appeal
by marking a major breakthrough in the battle against Batten
disease. A campaign
that started back in 2012 with the help of Flight of the
Conchords and many leading New Zealand entertainers provided
the crucial funding for South-island-based scientists to
research gene therapies for Batten disease, a rare and fatal
childhood condition.
Fast forward ten years and these
researchers from Lincoln University and the University of
Otago have developed a world-first treatment for Batten
disease, which has just been approved for trials
in humans.
Batten disease is a rare inherited
neurodegenerative disorder – children diagnosed with the
cruel disease often only live to their teens. Their brain
cells die away, and they suffer from symptoms similar to
those of epilepsy, blindness, Alzheimer’s and
Parkinson’s disease. There is no known cure for the
disease.
In 2021, the gene therapy for Batten disease
developed by New Zealand researchers – and funded by Cure
Kids (and others) – received US FDA approval for clinical
trials. The New Zealand researchers are hopeful that results
for humans will be similar to what they have seen in sheep.
Sheep with Batten disease generally only live for two years,
but the sheep given gene therapy are now living for more
than five years.
“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,” said Dr Nadia
Mitchell, Research Group Lead at Lincoln
University.
Because it is such a rare disease, this
first clinical study is currently recruiting in the US, at
the University of Rochester, New York. Funded by US-based
biotech company, Neurogene, the trial is recruiting children
between the ages of 3 and 8 years who have the rare CLN5
variant of Batten disease. The therapy involves a single
injection of a specially created vector which carries a copy
of the CLN5 gene to replace the faulty version in these
children. The treatment will be delivered to the brain and
eyes of each child, in the hope that the vector can
penetrate the cells, carrying healthy copies of the CLN5
gene, and slow down or stop the effects of the
disease.
The researchers will closely monitor children
for five years after treatment to detect any potential
safety issues, and assess any effects on children’s
movement, speech, vision or brain function. Meanwhile, back
in New Zealand, researchers at Lincoln University and the
University of Otago will continue to investigate whether
their breakthrough in gene therapy can be improved further,
or adapted to treat different subtypes of the disease. They
will work closely with the team at Neurogene throughout the
human trials, providing advice and
expertise.
Associate Professor Stephanie Hughes, who
led the work at the University of Otago to develop the viral
vector, is excited about the possibilities. “The FDA
approval gives hope to thousands of families with Batten
disease globally. We’re proud to see our science being
taken to the next stage, and we are continuing to refine our
methods for gene therapy and adapt it to help children with
other variants of Batten disease.”
Cure Kids CEO
Frances Benge is thrilled with the world-first breakthrough
and the funding role that Cure Kids has played in enabling
researchers to reach this milestone. “Every day, New
Zealand researchers are working tirelessly to find
treatments and cures for childhood illnesses and diseases,
funded by the generosity of Kiwis. To have a world-leading
breakthrough from some of the sharpest minds in the country,
that could lead to better treatments for those suffering
from Batten disease is a fantastic outcome. This research
takes time, considerable investment and effort from all
involved and we would like to thank all those who have been
a part of this journey as well as those who have given so
generously to Cure Kids.”
Red Nose Day is Friday
July 29, with the month of July marking a range of
fundraising initiatives in the community. Donations to Cure
Kids can be made at www.rednoseday.co.nz
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