Promising Gene Therapy For Rare Brain Disease
A recent study conducted by US researchers revealed that gene therapy could result in recession of a rare neurological disorder in children.
Although lead researcher Dr. Ron Crystal of New York-Presbyterian Hospital/Weill Cornell Medical Center said the team of researchers was “encouraged by the study’s results. “It’s not a cure."
Late infantile neuronal ceroidlipofuscinosis, or LINCL, is a neurodegenerative disease that affects the central nervous system in children. The disease usually results in death by age 8 to 12 years. Symptoms of LINCL usually appear in children by their 4th birthday.
The disease affects the CNS, causing children to lose coordination, vision and speech.
Scientists infused an adeno-associated virus carrying the corrective gene into the brains of 10 children involved with the study. Children were selected from the US, Britain, Australia and Germany. Half of them were severely affected by the disease while the other half was only moderately affected.
After watching the children for 18 months, researchers noted that eight of the participants showed signs that the degenerative disease was slowed by the procedure.
Their results were compared to those of four untreated children.
"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."
Magnetic resonance imaging scans of the brain also appeared to show slowing of the disease but this was less clear, he said.
"You can’t give back more brain cells. You can’t improve it. All you can hope to do is to delay progression," Crystal said.
However, one participant died of an epileptic seizure weeks after treatment, and another died of unknown causes two years after undergoing the procedure.
Crystal said one of the children who died was affected by treatment, but researchers are unsure whether it was related to the virus or not.
Crystal insisted that the gene therapy experiment was justified for the children. The mutations affect a mechanism that rids nerve cells of waste materials.
"It’s like the garbage man of the cell is not able to do its job," Crystal said.
"The trash keeps getting backed up inside the cell until the cells can no longer function properly and then eventually die throughout the entire brain."
LINCL is rare, only accounting for about 200 cases in children worldwide.
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Image Courtesy National Institutes of Health
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