Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by progressive muscle wasting and weakness. The severity of the disease varies between individuals, with the clinical spectrum ranging from early infant death to normal adult life with only mild weakness. Currently, there are no effective therapies. As SMA is caused by mutations in the SMN1 gene that result in a lack of SMN protein, gene therapy provides one possible treatment strategy. Marco Passini and colleagues, at Genzyme Corporation, Framingham, now provide hope that this therapeutic approach might one day be possible by showing that in a severe mouse model of SMA they can substantially improve muscle strength, coordination, and locomotion by injecting the gene-carrying therapeutic directly into the brain and spinal cord of newborn mice.
TITLE: CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
AUTHOR CONTACT:
Marco A. Passini
Genzyme Corporation, Framingham, Massachusetts, USA.
Phone: 508.270.2033; Fax: 508.271.4776; E-mail: marco.passini@genzyme.com .
View this article at: http://www.jci.org/articles/view/41615?key=87191885165c68a27202
Journal of Clinical Investigation