Spinal Muscular Atrophy: Overview, Causes, Symptoms, Treatment, Epidemiology and Market Insights Spinal muscular atrophy (SMA) is a hereditary condition characterized by muscle (skeletal muscles) wasting (atrophy) and weakness. It is caused by the loss of motor neurons, which are specialized nerve cells that control muscular movement. When comparing muscles close to the center of the body (proximal) to muscles further distant from the center of the body (distal), the weakening is more acute in the proximal muscles (distal). Muscle weakness frequently worsens as people get older. Changes in the same genes create numerous different kinds of spinal muscular atrophy (SMA Type 0, I, II, III, and IV). The kinds differ in terms of initial age and severity of muscle weakness, however, there is some overlap. Spinal Muscular Atrophy Causes A bi-allelic mutation of the surviving motor neuron gene 1 causes spinal muscular atrophy, a motor neuron disease (SMN1). On human chromosome 5q13, there are two identical genes: SMN1 (telomeric copy) and SMN2 (centromeric copy). These genes are in charge of producing survival motor neuron protein, which is required for motor neurons to govern our muscles to work normally. Insufficient spinal muscular atrophy protein production causes debilitating and often deadly muscular weakness. Spinal Muscular Atrophy Sign and Symptoms Depending on the type of spinal muscular atrophy, the symptoms vary widely. Children with the more severe form of spinal muscular atrophy (Type 1) typically exhibit more severe symptoms within the first six months of life. Lesser variants have milder symptoms that may not become apparent until the child is 18 months old or older. Muscle weakness and decreased muscle tone, limited mobility, respiratory problems, problems eating and swallowing, delayed gross motor skills, spontaneous tongue movements, and scoliosis are some of the symptoms of spinal muscular atrophy (curvature of the spine). Spinal Muscular Atrophy Epidemiology According to B. Melissa et al. "Therapeutic strategies for spinal muscular atrophy: SMN and beyond," published in 2017, spinal muscular atrophy is the most frequent genetic disease that results in infancy death, affecting around 1 in 6,000 to 1 in 10,000 births. As a result, therapies that improve neuromuscular function while also maintaining persons with SMA's overall health are a top priority and an unmet clinical need. According to DelveInsight, the total Spinal Muscular Atrophy prevalence in the seven major markets is 19,343 cases, with Germany having the greatest prevalence with 1,643 cases, followed by the United Kingdom and France. Spain, on the other side, had the lowest prevalence in 2017, with 468 cases. Spinal Muscular Atrophy Treatment
There is currently no complete cure for SMA. However, the revelation of the genetic cause of SMA has led to the development of a gene replacement therapy called Zolgensma, as well as two drugs named nusinersen (Spinraza) and risdiplam that alter the genes involved in SMA (Evyrsdi). Before being approved by the US Food and Drug Administration, all three treatments were tested in clinical trials at Boston Children's Hospital and elsewhere (FDA). Spinal Muscular Atrophy Market Spinal muscular atrophy is a rare inherited neuromuscular condition that causes muscle weakening and atrophy over time. Spinal muscular atrophy is currently managed with supportive and interdisciplinary treatment, to minimize complications and enhance the quality of life. Alternatives for symptomatic relief are currently available on the market, however curative therapy remains a high unmet need. Multiple possible treatments for spinal muscular atrophy are in late-stage development and are expected to be released soon. Novartis, Cytokinetics/Astellas, Catalyst Pharmaceuticals, and a few more are among the companies developing therapies for patients with Spinal Muscular Atrophy. In the coming years, clinical trials for Reldesemtiv (Astellas Pharma/Cytokinetics), Branaplam (Novartis), Amifampridine Phosphate (Catalyst Pharmaceuticals), BVS 857 (Novartis), and a few more promising options are likely to boost the Spinal Muscular Atrophy market size.