First Dosing of SMA1 Patient in Gene Transfer Trial’s Intermediate Cohort Begins

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by Ahmad Kilo |

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SMA and breathing

updatedAveXis24_copy-2Dallas-based biotechnology company AveXis, Inc. announced yesterday that they have successfully dosed the first patient in the intermediate cohort of their Gene Transfer Clinical Trial for chariSM A™ for Spinal Muscular Atrophy Type 1. The news comes just days after the company announced on December 5th that the dosing phase in the low-dose cohort of the study is complete. The study aims to evaluate the product’s safety and efficacy in a 3-cohort design. This pipeline gene therapy product uses AAV9 — a small virus that can effectively cross the blood-brain-barrier — to effectively deliver functional SMN protein in patients with spinal muscular atrophy (SMA), offering a potentially groundbreaking treatment.

Spinal muscular atrophy (SMA) is a hereditary disorder that causes loss of lower motor neurons, leading to progressive muscle weakness. This is due to a genetic abnormality in the SMN1 gene that is responsible for coding functional SMN protein, which is necessary for motor neuron integrity. Today, SMA is ranked the most deadly genetic cause of fatality in infants.

“We are incredibly pleased with the progression of the current trial for the first gene therapy treatment of SMA,” said John A. Carbona, Chief Executive Officer of AveXis. “The additional cohorts will provide further safety, efficacy, and dosing information that will guide future studies, such as the intrathecal trial we have planned for 2015.”

The Gene Transfer Clinical Trial is an open-label, single-dose, dose-escalation study that aims to enroll 9 infants younger than 9 months old, and diagnosed with SMA Type 1. Dr. Jerry Mendell will be overseeing the study at The Research Institute at Nationwide Children’s Hospital.

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To learn more about the other ongoing trials to treat SMA, along with patient information and support services, visit:, a patient-oriented, SMA-focused web resource recently launched by AveXis.

In other SMA news, Isis Pharmaceuticals announced last week that it has launched Phase III clinical trials for their pipeline treatment for SMA, ISIS-SMNRx. The program, called CHERISH, will enroll about 120 non-ambulatory children diagnosed with SMA, and will be the second Phase III study for the product. Upon successfully dosing their first patient, Isis received a $27 million milestone payment from its development partner Biogen Idec.