Scientists working with animals say they’ve made an advance in efforts to develop gene therapy that one day might treat a fatal neurodegenerative disease in children.
Batten disease is a fatal, inherited disorder caused by a mutation in the TPP1 gene, which impairs brain cells’ ability to recycle cellular waste. The abnormal buildup of this waste affects walking, talking, thinking and sight. Symptoms and seizures typically begin in early childhood, then the disease progresses. Many children with Batten disease die by age 10, according to the researchers.
In this study, the researchers placed a working version of the TPP1 gene into dogs with a naturally occurring disease that mimics Batten disease. The treatment did not cure the dogs, but did delay the onset of symptoms and extended their lives.
“One treatment of gene therapy gave these dogs a remarkable improvement in their quality of life,” said lead researcher Beverly Davidson, director of the Raymond G. Perelman Center for Cellular and Molecular Therapeutics at the Children’s Hospital of Philadelphia.
“If the outcome is equally profound in children with the same enzyme deficiency, this would represent a great benefit for affected children and their families,” Davidson said in a hospital news release.
However, results of animal studies often aren’t replicated in humans.
The study was published online Nov. 11 in the journal Science Translational Medicine.
The U.S. National Institute of Neurological Disorders and Stroke has more about Batten disease.