Dosing Completed For First Cohort in Type 1 Spinal Muscular Atrophy Clinical Trial

Orphan drug development company AveXis Inc. recently announced the completion of the dosing phase in the low-dose cohort of the company’s ongoing clinical trial efforts for its experimental Type 1 spinal muscular atrophy (SMA) therapy. This is the first human gene therapy trial for the disease, which started enrolling participants in late April.

SMA is the number one genetic disorder that kills infants worldwide. It is an autosomal and recessive genetic disorder that causes progressive weakness of the lower motor neurons. The disease occurs when there is a defect in the SMN1 gene. Because of this mutation, the SMN protein (encoded by the SMN1 gene) becomes defected as well, leading to a progressive muscle atrophy and eventually death.

AveXis Inc. is a clinical-stage gene therapy company based in Dallas, Texas currently developing an innovative treatment for Spinal Muscular Atrophy. Its lead investigational drug ChariSMA offers a unique approach to addressing the disease, which is extremely difficult to treat due to the challenges in crossing the blood-brain-barrier — a protective system in the body that prevents many drugs from reaching the brain. ChariSMA is a type of “viral gene therapy” that actually uses a small virus as a vehicle that can move through the blood-brain-barrier and deliver the gene therapy into the brain, treating the underlying cause of SMA.

“History in gene transfer therapy was made on May 13th, when an infant was successfully injected with about 400 trillion viral particles containing the SMN transgene without any complications to date,” said AveXis’s CEO, John A. Carbona in a press release. “That historical moment was followed by the dosing of two additional infants in the low dose cohort.”

In addition, the company also announced plans to alter the design of the current trial by adding a third cohort at a mid-range dose.

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Allan Kaspar, Chief Scientific Officer of AveXis, said: “We are also on track to start our intrathecal trial in the first half of 2015 and very serious thought is being given to opening a trial to treat Type 2 patients in 2015. Right now, we are looking at patient recruitment as a gating issue.”

AveXis also announced that it is launching the Contact All Neurologists (C.A.N.) Program, an initiative to grow awareness of the ongoing and upcoming clinical trials regarding SMA and to inform neurologists about how they can help in recruiting patients. The company will be reaching out to foundations and advocacy groups, inside and outside the country, to emphasize awareness.