On Wednesday, little Ariel Coover lay with her chin tucked to her chest in a bright, white operating room at Cooper University Hospital in Camden. The only visible part of the 3 1/2-month-old was the top of her bald head, where six catheters protruded like shiny strands of hair.
Through those tubes flowed her only chance for a normal life: 900 billion viral particles carrying the one gene that could keep her brain from slowly eroding into a spongy mass.
Ariel is the latest and youngest patient in the first clinical gene-transfer study of its kind to receive funding from the National Institutes of Health.
Combining computer-assisted imagery, an ultra-pure viral delivery system, and an extremely young patient, researchers hope to have found a way to combat Canavan disease, a degenerative genetic disorder that leads to seizures, paralysis and death.
Since 2001, only 10 other patients have participated in the study, which is still in Phase One safety trials. The results have been promising. Researchers found that all of the patients' brains have stopped atrophying. None of the patients have died, and at least one has lived past the average life expectancy of 10 years.
But the treatment doesn't reverse the disease; it only stops it. None of the patients are able to walk unassisted or talk.
What makes Ariel special is that she is too young to have been affected. Well before she was born, parents Walter and Peggy Coover knew what they were in for. Through genetic testing during pregnancy, doctors confirmed Ariel had Canavan.
This wasn't new ground for the family from Shippensburg, Pa. Their daughter Amber would have turned 13 in August, but in 2000, she died from the disease.
"We were a lot younger then," said Peggy, who gave birth to Amber at 19. "We grew up because of her. We learned to ask more questions and not listen to everything they say."
What they said was that Canavan has no cure, that parents are doomed to watch their thriving children devolve to where communication consists of faint smiles and eye blinks. Eventually, they said, the children die.
But Amber taught the Coovers to "take more chances because it's final," Walter said. "When it's done, it's done."
That's what sent the Coovers to Cooper. Since 1995, neuroscientist Paola Leone, director of the Cell and Gene Therapy Center there, has been developing a gene-therapy treatment for Canavan.
