Researchers use gene therapy to treat spinal muscular atrophy

Spinal muscular atrophy is one of those rare diseases that has attracted major league pharma interest. Just at the beginning of this year, Biogen Idec ($BIIB) and Isis partnered on an early-stage program, following a separate pact between Roche ($RHHBY) and PTC Therapeutics. And now scientists at the University of Missouri say they've registered some intriguing results in a preclinical animal study, demonstrating that inserting a missing gene into the central nervous system offered a crude but effective method for extending survival.

The team at MU inserted a missing gene in mouse models of SMA. Children who inherit the disease are missing a gene required to direct commands to the body's muscles. In the mouse study, investigators inserted the gene intravenously as well as directly into the nervous system.

"Typically, mice born with SMA only live five or six days, but by introducing the missing SMN gene into the mice's central nervous systems, we were able to extend their lives 10-25 days longer than SMA mice who go untreated," said Professor Christian Lorson. "While this system is still not perfect, what our study did show is that the direct administration of the missing gene into the central nervous system provides some degree of rescue and a profound extension of survival."

Lorson added that human studies of the gene therapy should begin in the next 12 to 18 months. Given the extraordinarily rare nature of the disease, SMA studies are typically quite small.

- here's the press release

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