A novel gene therapy for Batten disease
Batten disease gene therapy to help progress to clinical trials
Dr Stephanie Hughes
University of Otago, Dunedin
What is Batten Disease?
Batten disease is an inherited neurodegenerative childhood disorder. Although quite rare, its impact is always devastating. The progression of symptoms includes, losing the ability to walk, talk and feed, invariably leading to premature death.
No effective treatments exist, however, promising gene-therapy research funded by Cure Kids has proven curative in a form of the disease (CLN5) in a sheep model with naturally occurring Batten disease.
The disorder is characterised by a defective enzyme that usually assists in the recycling of waste from cells; or, in some forms of the disease, a defective membrane protein. The missing enzyme means there is an accumulation of cellular debris that can’t be broken down.
What will the research entail?
Dr Stephanie Hughes will undertake gene-therapy in mice, which proved effective in CLN5 sheep, with naturally occurring CLN6 Batten disease. The therapy will be tested both pre and post onset of the disease. The latter being useful, as, often children are diagnosed well after onset of the disease, and hence it is vital that there is a treatment to reverse the symptoms post onset.
Disease symptoms manifest in mice in a very similar way as to those in humans, with mice having the additional benefit of having rapid disease progression, meaning the work can proceed at a rapid rate.
The mice will be closely monitored with behavioural tests beginning at two months of age and continuing on a monthly basis. The tests are devised to assess many of the manifestations of Battens disease such as blindness, anxiety, motor function, and seizure analysis.
What is this study looking to achieve?
The results of this study, and the previous sheep model study in CLN5, have the potential to lead to human trials among children living with Batten disease, finally giving them and their families hope of an effective treatment. There also exist possible spill over benefits for other lysosomal storage diseases that affect thousands of children all over the world.