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.
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