"Through studies in sheep, we gain valuable insights into the progression of this condition which can guide our work towards developing an effective therapy" - Prof. Tom Wishart.

Regular infusions of PPT1 led to improvements in mice and sheep.

A University of Edinburgh-led study has found a promising new treatment for childhood dementia.

The study by the Roslin Institute found that regular infusions of a key enzyme (PPT1), which is deficient in children with infantile Batten disease, led to improvements in mice and sheep with an equivalent genetic disorder. 

Researchers hope the findings, published in The Journal of Clinical Investigation, could help to inform the development of effective treatments for children.

Professor Tom Wishart, Professor of Molecular Anatomy at the Roslin Institute, said: “This study could only have been done by a collaborative research team. Such work is a key step towards everyone’s ultimate goal of safely carrying out clinical tests of potential treatments in children affected by this devastating condition. 

“Through studies in sheep, we gain invaluable insights into the progression of this condition which can guide our work towards developing an effective therapy.”

Batten Disease is a fatal, inherited condition of the nervous system that leads to loss of vision, cognitive and movement dysfunction, seizures and early death. In the study, researchers assessed the impact of administering the PPT1 enzyme in sheep and mice with the same faulty gene that gives rise to the condition in children.

The team found that monthly doses of the enzyme to the brains of mice led to reduced signs of disease in brain cells, improved motor function, and reduced loss of brain matter over six months of treatment. Crucially, they were able to scale up the amount of enzyme used in mice to prove effective in sheep - and could therefore demonstrate that the treatment could have a positive effect in a much bigger brain.

Study co-author, Professor Jonathan D Cooper from the Washington University School of Medicine in St. Louis, said: “Our work together with colleagues at the Roslin Institute has shown the potential for this new therapy to treat this devastating fatal disease. 

“Not only did we improve disease in mice, but we were successful in scaling it to have similar partial efficacy in the much larger brain of a sheep model of the same disease. This is the result of combining our expertise, using models that were made specially to test therapies like this. Our goal is to be able to treat children with this disease, and this is an important step towards achieving this.”