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Spinal muscular atrophy (SMA) is a rare inherited genetic disease that is characterized by loss of nerve cells, known as motor neurons. Motor neurons receive nerve impulses that are transmitted from brain to spinal cord, and further transmit these impulses to muscles with the help of peripheral nerves. Loss of motor neurons can lead to atrophy and weakness in the muscles, which are closest to the trunk of the body such as back, hips, and shoulders. SMA is mainly caused due to mutation in survival motor neuron 1 (SMN1) and SMN2 genes in chromosome 5. Any mutation in SMN1 gene can lead to SMA atrophy. Based on age, the disease is categorized into two types: childhood-onset SMA and adult-onset SMA.

Symptoms associated with the disease include loss of reflexes or presence of tremor in hands and fingers, respiratory difficulties, and scoliosis (curvature of the spine). The diagnosis of SMA includes physical examination, blood test, and genetic testing. Spinraza (by Biogen Inc.), a SMN2-directed antisense oligonucleotide, is the only marketed drug available for the treatment of SMA.

Companies that are involved in developing therapeutics for SMA have shown positive clinical results in various phases of drug development. For instance, in April 2018, AveXis Inc. presented phase I clinical data of a gene therapy, AVXS-101, at the 2018 Annual Meeting of the American Academy of Neurology (AAN) in Los Angeles. The drug candidate is being developed for the treatment of SMA type I. In the clinical study, AVXS-101 was found safe and well-tolerable.

In December 2018, Novartis AG announced that the U.S. Food and Drug Administration (USFDA) has accepted the company's biologics license application (BLA) for AVXS-101, also known as ZOLGENSMA, an investigational gene replacement therapy for the treatment of SMA type I.

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