In May 2014, Genzyme and research collaborators published the results of an SMN (survival motor neuron) gene therapy study in the paper, “Translational fidelity of intrathecal delivery of self-complementary AAV-9-survival motor neuron 1 for spinal muscular atrophy.” Study findings have since spurred an active program in SMA gene therapy at Genzyme.

How SMN gene therapy works

Genzyme’s current investigational program is focused on the delivery of the AAV9-SMN gene into cerebrospinal fluid. Work in mouse models of SMA has shown that delivery of AAV9-SMN1 into the cerebrospinal fluid results in a transfer of the gene to the spinal motor neurons and in SMN protein expression.

Clinical trials for SMN gene therapy

Study results have been published supporting the use of harmless, genetically engineered viruses to treat SMA. These viruses can potentially replace some of the SMN protein lost in SMA patients.

Injecting a virus engineered to produce a fluorescent signal, Genzyme and collaborators were able to show that the gene therapy targets up to 35% and 75% of the motor neurons in the spinal cord of young pigs and non-human primates, respectively.

In mice with SMA, the engineered viruses also positively affected the progression of the disease, suggesting that the benefits are likely to be translated into larger animals and maybe humans. Models of larger species are not yet available.

In April 2014, a Phase 1 clinical trial of a virus-mediated SMN gene therapy in infants with Type I SMA was initiated.

Next steps for SMN gene therapy

This Genzyme study provides additional, continued support for the ongoing Phase I trial of SMN-producing viruses in SMA patients.

Read the latest news about gene therapy at SMA News Today and follow the latest developments for all experimental spinal muscular atrophy treatments on the SMA Therapy Tracker.

SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

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