WASHINGTON (Reuters) - An experimental gene therapy treatment appears to have helped eight children with a rare and incurable neurological disorder, although it may have been responsible for the death of one, researchers reported on Tuesday.
They said the treatment appeared safe and effective enough to try in more children with late infantile neuronal ceroidlipofuscinosis, or LINCL, a form of deadly Batten disease, a fatal, inherited disorder of the nervous system that begins in childhood.
The treatment, in which a virus carrying the corrective gene was infused directly into the brain, appeared to slow the decline of 8 out of 10 children treated, Dr. Ron Crystal of New York-Presbyterian Hospital/Weill Cornell Medical Center and colleagues reported.
"We are encouraged by this. It's not a cure," Crystal said in a telephone interview.
Like all forms of gene therapy, the hope is that the mutant cells will take up the new gene and start working normally.
Children with LINCL start showing symptoms at about age 4. They lose coordination, vision and speech and usually die unable to breathe on their own, between 10 and 12.
One child suffered an epileptic seizure weeks after treatment and died and another child died of unknown causes two years after treatment.
Eight of the children showed a measurable slowing of the inevitable decline usually seen in the condition.
"The disease is caused by mutations in the CLN2 (ceroid lipofuscinosis, neuronal 2) gene," Crystal and colleagues wrote in their report, which was published in the journal Human Gene Therapy.
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The researchers chose 10 children from the United States, Britain, Australia and Germany, 5 severely affected by the disease and 5 moderately affected.
Tiny glass tubes infused the adeno-associated viruses carrying the corrective gene into the brains of the children. Crystal's team watched the 10 children for 18 months, comparing them to 4 untreated children with the same condition.
"The primary variable was a clinical rating scale based on the number of seizures, language skills, motor skills and so on," Crystal said. "That's where we saw what appeared to be statistically significant."
