The Oneida Daily Dispatch (Oneida, NY)
Baby gene therapy study offers hope for fatal muscle disease
WASHINGTON » Afirstattempt at gene therapy for a disease that leaves babies unable to move, swallow and, eventually, breathe has extended the tots’ lives, and some began to roll over, sit and stand on their own, researchers reported Wednesday.
Only 15 babies with spinal muscular atrophy received the experimental gene therapy, but researchers in Ohio credited the preliminary and promising results to replacing the infants’ defective gene early — in the first few months of life, before the neuromuscular disease destroyed too many key nerve cells.
“They all should have died by now,” said Dr. Jerry Mendell of Nationwide Children’s Hospital, who led the work published by The New England Journal of Medicine. Yet, “those babies are still improving.”
Mendell cautioned that much more study is needed to prove the gene therapy works and is safe. Nor is it clear whether the replacement gene’s effects would wane over time.
Spinal muscular atrophy occurs in about 1 in 10,000 births, and those with the most severe form, called SMA Type 1, rarely reach their second birthday. They can be born looking healthy but rapidly decline. One study found just 8 percent of the most severely affected survived to age 20 months without needing permanent mechanical ventilation to breathe.
There is no cure. The first treatment wasn’t approved until last December— a drug named Spinraza that requires spinal injections every few months.
The experimental gene therapy approach aims for a one-time fix. WHAT GOESWRONG Spinalmuscular atrophy is caused when a mutated gene can’t produce a protein crucial for survival of motorneurons, nerve cells in the spinal cord that control muscles.
Some children carry extra copies of a backup gene that produces small amounts of the vital protein, and thus have much milder forms of the disease. GENE REPLACEMENT Scientists loaded a healthy version of the gene into a virus modified so it couldn’t cause illness. Then 15 babies got a one-time intravenous injection. The virus carried the healthy gene into motor neurons, where it got to work producing the protein those nerve cells require to live.
Three babies received a low dose of the gene therapy, as a first-step safety precaution. The remaining 12 got a high dose. RESULTS All of the children are alive, Mendell said, about two years and counting after treatment. All beat the odds of needing permanent machine help to breathe by age 20 months.
But only the high-dose recipients sawbettermotor control, reaching some developmental milestones usually unthinkable for these patients. Eleven could sit unassisted at least briefly; nine could roll over. Eleven are speaking and able to swallow. Twowere able to crawl, stand and then walk, Mendell’s team reported.
Those results are “very striking,” said Dr. Basil Darras, who directs Boston Children’sHospital’s neuromuscular center and wasn’t involved in the new research.
While the treatment needs testing on far more babies, usually “there are no further developmental gains” after diagnosis, Darras explained. “They stagnate for a while and they go downhill very fast and die.”
The only serious side effect attributed to the gene therapy so far involved possible signs of a liver problem that eased with treatment. NEXT STEPS AveXis Inc., which is developing the gene therapy and helped fund Wednesday’s study, has opened a second small trial at seven hospitals.
Meanwhile, doctors are prescribing SMA patients the new medication Spinraza, which works by increasing that backup gene’s protein production and, according to a separateNewEnglandJournal study, had some benefit in about half of patients. The first year of treatment costs about $750,000, an accompanying editorial noted. NEWYORK » The U.S. rate for gun deaths has increased for the second straight year, following 15 years of no real change, a government report shows.
Roughly two-thirds of gun deaths are suicides and those have been increasing for about 10 years. Until recently, that has been offset by a decline in people shot dead by others. But there’s been a recent upswing in those gun-related homicides, too, some experts said.
Overall, the firearm death rate rose to 12 deaths per 100,000 people last year, up from 11 in 2015, according to the report released Friday by the Centers for Disease Control and Prevention. Before that, the rate had hovered just above 10 — a level it had fallen to in the late 1990s.
In the early 90s, it was as high as 15 per 100,000 people.
In the past two years, sharp homicide increases in Chicago and other places that have been large enough to elevate the national statistics. According to the FBI’s raw num-