NEW YORK (May 13, 2008) -- Promising results from a team of NewYork-Presbyterian Hospital/Weill Cornell Medical Center physician-scientists show that gene therapy is both safe and effective at slowing the progression of Batten disease, or Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL), a rare, genetic, degenerative neurological disorder that usually becomes fatal in children by the age of 8 to 12.
The clinical trial found that the procedure -- which involves injecting a harmless gene-bearing virus into the brain -- was not only safe, but, on the average, significantly slowed the disease progression of the subjects tested. Neurological function was assessed using a rating scale throughout an 18-month follow-up period.
"The virus is used as a Trojan horse that houses and then delivers a healthy, functional gene into the cells of the brain," says lead author Dr. Ronald Crystal, chairman of the Department of Genetic Medicine and chief of the Division of Pulmonary and Critical Care Medicine at NewYork-Presbyterian Hospital/Weill Cornell Medical Center. "The genes are incorporated within the genetic material of the cells, which are then able to produce a protein that is deficient in Batten disease."
Dr. Crystal is a world leader and pioneer in the use of gene therapy to treat a number of genetic disorders and diseases.
The results are published in the May 13 online issue of Human Gene Therapy.
The gene in question -- CLN2 -- is mutated in children with the disease, causing a deficiency in the enzyme TTP-1, which is responsible for ridding cells of the central nervous system of waste materials. Small organelles within the cell, called lysosomes, become clogged with toxic material within the neurons of the brain.
"It's like the garbage man of the cell is not able to do its job," says Dr. Crystal. "The trash keeps getting backed up inside the cell until the cells can no longer function properly and then eve
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New York- Presbyterian Hospital/Weill Cornell Medical Center/Weill Cornell Medical College