Helping the development of gene therapy for all forms of Batten disease

Batten disease is a group of rare inherited genetic disorders of the nervous system that typically appears before the age of ten years. About four New Zealand kids are diagnosed with Batten disease each year. And right now, there is no cure, but there's hope in gene therapies.

Dr Nadia Mitchell and her team have been studying gene therapy in sheep with the naturally occurring CLN5 form of Batten disease. Their successful studies have led to the first in-human clinical trials for a gene therapy to fight CLN5 Batten disease.

For another type of Batten disease, CLN6, there is no preventative treatment yet. However, this team have shown that gene therapy studies in sheep with CLN6 can slow the disease – and animals treated with this gene therapy survived well past their life expectancy.

Now, Nadia and her team are wrapping up their studies on CLN5 and CLN6 by using histopathology and MRI to check the brains and peripheral tissues of treated sheep. They want to see if there's any improvement in the disease; whether issues outside the brain play a role; and if MRI scans can show how well the treatment is working. Their findings will benefit children with CLN6 and provide invaluable information for the development of gene therapy for all forms of Batten disease.