Gene Therapy Used to Treat Batten Disease

Batten disease, a rare and fatal childhood neurological disease, can be treated with gene therapy to slow the progression of the disease in children. Research conducted at the University of Missuori focused on the treatment of the late infantile form of the disease which is caused by mutations in the gene that encodes for the soluble lysosomal enzyme tripeptidyl peptidase 1, an enzyme that degrades proteins (TPP 1). By injecting dogs with a virus that carries the genes to code for the TPP 1 enzyme into the ventricles, the dogs lived about twice as long.  Symptoms of the disease include: vision loss, subtle changes in personality and behavior, slow learning, clumsiness, or stumbling. Dogs that were injected with the treatment showed a delay in developing, or no development whatsoever, symptoms associated with movement, pupil tracking and decision making.  When the scientists inspected the dogs brain's they found that the treated dogs had less brain damaged caused by the disease.  

Although this treatment has not yet been approved for human trial, this research is promising in offering a treatment to slow the progression of this fatal disease.  By using gene therapy, faulty genes are replaced with properly functioning genes, in turn these genes produce functioning proteins which slow the effect of the disease on the brain.  

Breakthrough in a Fatal Childhood Disease

Batten disease is a neurodegenerative disease in children. The disease is caused by a mutation in the TPP1 gene, which is inherited. TPP1 interferes with the brain cell's ability to recycle cellular waste. This leaves the brain with a buildup of waste, which affects the child's ability to walk, talk, think, and see. The average life expectancy for a child with Batten disease is about 10 years. A major breakthrough in research is leading scientists to believe that they have found a way to prolong the affects of the disease, increasing quality of life. 

The research was conducted at the Raymond G. Perelman Center for Cellular and Molecular Therapeutics at the Children's Hospital of Philadelphia, and lead by Beverly Davidson. Dogs were used to test out the use of gene therapy. Researchers inserted a working version of the TPP1 gene into dogs. The dogs were not cured of the disease, but their life expectancy increased and it delayed the onset of symptoms. The research does state that it would be beneficial if the outcome was the same for human patients, but there needs to be more work. I look forward to reading more about this research. I am very interested in chronic diseases, and how gene therapy can work to reverse the diseases, or prolong symptoms onset. I do not think that this research is ready to be tried on children quite yet, but I hope to see it develop into a trial soon.