Two Lincoln University researchers, Dr Nadia Mitchell and Dr Samantha Murray, have recently been awarded three grants totalling over $477,000 for research into the understanding and treatment of neuronal ceroid lipofuscinosis, or Batten disease – a family of fatal neurodegenerative diseases primarily affecting children.
There are 13 forms of Batten disease, each caused by the lack of a particular gene, and there is currently no cure and no hope of an effective treatment.
The disease, often appearing early in a child’s life, causes brain degeneration manifesting in devastating symptoms including vision loss, seizures, dementia, abnormal movements and inability to communicate. Sufferers typically die in their teens.
With the help of the grants, awarded by Batten Disease Support and Research Association (BDSRA) Australia, Cure Kids New Zealand and Neurogene Inc (USA), Drs Mitchell and Murray could be close to changing that grim prognosis.
The Lincoln pair are developing a gene therapy that appears to slow and even halt the progress of the disease in sheep with a naturally-occurring form of the disease.
Dr Mitchell explains, “The brains of sheep with Batten disease shrink, as do the brains of humans with the condition. When we replace the missing gene in affected sheep before they display symptoms, in most cases the disease can be prevented. When we replace the gene after the sheep begin to display symptoms, the therapy slows the progress of the disease.
“The implications of our research are hugely significant, and offer considerable hope to the families of Batten disease sufferers.”
Dr Mitchell’s team are working with an American pharmaceutical company, Neurogene Inc, to gain US FDA approval to begin the first human trial of the gene therapy for a common form of Batten disease, and if the trial proves successful they are hoping similar treatments and delivery routes can be tested in patients with other forms of the disease. Patients are currently being recruited for the trial from around the world.
While Neurogene Inc is the principal sponsor, Cure Kids New Zealand funds Dr Murray’s project grant to better characterise the retinal disease in affected sheep. Technical support for both projects will be enabled by the awarding of the BDSRA grant.
BDSRA spokesperson Dr Ineka Whiteman said the organisation was pleased to award their grant to Dr Mitchell and her team at Lincoln University.
“The research being undertaken by Dr Mitchell and her team is truly world-class, and will help provide the essential data required for translating animal model research into human clinical studies.”
