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Gene Therapy Brings Hope to Children with Batten Disease

Batten disease is a tragically devastating disease so rare that only about 200 children around the world have it at any one time. One reason for its rareness is that it most often kills the stricken child before his or her 12th birthday. Also known as LINCL, or Late Infantile Neuronal Ceroid Lipofuscinosis, the genetic disease hinders the child’s brain cells’ ability to expel cellular waste material. The ever-expanding amount of cellular waste clogs the cell, becoming toxic, and eventually causing enough damage to kill the cells in the brain.

Children with Batten disease usually begin showing symptoms of decline by age 4, when speech and other developmental problems become apparent. Other symptoms include ataxia (impaired muscle coordination) and myoclonus (involuntary twitching). Eyesight becomes affected as well.

In many cases, children become wheelchair-bound between the ages of 4 to 6 and become entirely bedridden soon after that. Death from neurological degeneration usually comes between the ages of 8 and 12. There is no cure and no effective treatment for the disease at this time.

The disease is caused by a deficiency in TTP-1, an enzyme responsible for cleansing cellular waste material from the cells themselves. The enzymatic deficiency is caused by a mutation in the gene identified as CLN2.

Using a very carefully selected group of children with Batten disease, a team of researchers from New York-Presbyterian Hospital/Weill Cornell Medical Center used a harmless virus carrying a healthy, functional version of the CLN2 gene to begin production of the deficient TTP-1 enzyme. The surgeons, led by Michael Kaplitt and Mark Souweidane, created six tiny holes in the skulls of the children and injected the gene-laced virus into the children’s brains.

Follow-up studies, conducted as long as 18 months after surgery, proved the procedure to be safe and to significantly slow progression of the disease in the average patient. The research team suggests the gene therapy procedure hints at hope for future therapies for Batten disease as well as for other neurological disorders.

The online journal, Human Gene Therapy, carries the full story of the study in its May 13 issue.

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