Batten Disease is a rare neurodegenerative disease causing seizures, vision loss, cognitive impairment and early death. There is no cure…but there is hope. Gene therapy is a promising treatment option used to replace the gene that causes Batten disease, stopping the disease from progressing.
HOW COMMON IS BATTEN DISEASE?
Every year, hundreds of children are born with some variant of Batten Disease, all of which are fatal and have no cure. Worldwide, roughly 14,000 children are afflicted with this disease. Siblings also have a 25% chance of developing the disease, which makes the diagnosis all the more devastating for families as they wonder the fate of their other children.
THE SCIENCE BEHIND BATTEN
Batten Disease is a lysosomal storage disorder, caused by a single gene mutation that prevents cells from breaking down fats and proteins, leading to a build-up of waste within neurons. This results in cell death and the body’s inability to function normally. The condition is autosomal recessive, meaning both parents must carry the same abnormal gene in order for their children to develop the disease. There are fourteen known variants of Batten – CLN1 – CLN14 – and each is unique enough to require its own research and trials.