Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the part of the nervous system which controls the voluntary movement of limbs and muscles. SMA results in the loss of motor neurons in the Spinal Cord. SMA is one of the most common causes of infant mortality and mobility impairment. Spinal Muscular Atrophy is caused by the mutations in chromosome 5 of the SMN1 gene. No- SMN1 Mutation and other mutations are also found to be responsible for the occurrence of Spinal Muscular Atrophy. Defect in the SMN gene further leads to the deficiency of SMA protein. There are multiple copies of SMA2 gene as well, but they aren’t as effective as SMN1 gene.
The Spinal Muscular Atrophy’s symptoms vary from person to person. It mostly affects proximal muscles and respiratory muscles. However, Spinal Muscular Atrophy does not hamper the sensory, Emotional and mental functions of a human body. With a broad spectrum of Symptoms, and on the basis of age at onset and severity of functional impairment, Spinal Muscular Atrophy is bifurcated into further five types ranging from SMA Type 0 to SMA Type 4 where the majority (three-fourths) of the prevalent population belongs to Type 2 and Type 3 SMA. Type 0, (prenatal onset SMA) is the most severe form of SMA. It affects a baby that is still in the womb.
Type 1 spinal muscular atrophy has been termed Werdnig-Hoffmann disease and is mostly fatal by two years of age. Children with spinal muscular atrophy type 2 can usually achieve the ability to sit but have limited walking. Patients with type 3 or Kugelberg-Welander syndrome develop weakness in the teen or young adult years. SMA type 4 is caused by mutations in the SMN1 (survival motor neuron 1) gene.
Spinal Muscular Epidemiology
Spinal Muscular Atrophy is the second most common fatal autosomal recessive disorder affecting 1 in 10,000 live births. According to DelveInsight’s estimates, the Spinal Muscular Atrophy Prevalence in 7 Major Markets (MM) was 19,343 in 2017. Geography-specific data revealed a total of 13,036 people were living with SMA in the United States. However, the Spinal Muscular Atrophy Prevalence in European countries was a bit higher. Germany had the maximum population suffering from SMA closely followed by the UK.
The Spinal Muscular Atrophy Diagnosed prevalent population in 7MM was 17,094 in 2017. The diagnosed prevalent population of Spinal Muscular Atrophy in 7MM is expected to increase at a Compound Annual Growth Rate (CAGR) of 0.88% for the study period, i.e. 2017-2028.
Spinal Muscular Atrophy Market
With the emergence of several upcoming therapies with a novel mechanism of action will the Spinal Muscular Atrophy market size elevate in the coming years. The Spinal Muscular Atrophy Market is expected to augment from 1,317 Million in 2017, at a CAGR of 10.42% for the study period (2017-2028). The total market size is calculated by including the market size of both the current and the emerging therapies. The United States accounts for the largest market size of Spinal Muscular Atrophy, in comparison to EU5 (the United Kingdom, Germany, Italy, France, and Spain) and Japan. Among the EU5 countries, Germany had the highest market size of 106.23 Million in 2017, while Spain had the lowest market size of Spinal Muscular Atrophy of 30.23 Million, which is expected to grow at a CAGR of 10.10% and 10.44% respectively.
The total Spinal Muscular Atrophy US market size was USD 892.37 Million in 2017. DelveInsight’s analysts estimated that the market is expected to show positive growth, mainly attributed to an increase in Spinal Muscular Atrophy diagnosed prevalence and also, due to the launch of upcoming therapies during the forecast period.
The current Spinal Muscular Atrophy US therapeutic market is dominated by the symptomatic treatment focused on Nutrition, Respiratory Care Assessment, Respiratory Muscle Weakness, Orthopedic Care, Rehabilitation, along with few medications.
A few off-label alternatives like Valproic acid found to offer minor improvements in some SMA patients but is no longer recommended due to serious side effects. Few molecules are also found to be associated with Spinal Muscular Atrophy as off-label therapies. The current Spinal Muscular Atrophy market holds Spinraza as the only approved drug for the management of Spinal Muscular Atrophy. Delveinsight believes that the current market for Spinal Muscular Atrophy is set to expand in the upcoming years.
Spinal Muscular Atrophy Therapies
Key players such as Novartis, Astellas Pharma, Hoffmann–La Roche, Catalyst Pharmaceuticals, etc. has the potential to create a significant positive shift in the Spinal Muscular Atrophy therapeutic Market Size. The late and mid-stage products Zolgensma (AVXS-101), Risdiplam (RG7916), Reldesemtiv (CK-2127107), Branaplam (LMI070), are the recipients of several designations from various regulatory bodies and have emerged as promising options to enter the SMA market. Among all these upcoming years, Zolgensma, Risdiplam, Reldesemtiv are expected to hold the largest market share after their launch.
Cheers to the dedication of the Researchers now that we have a first-ever approved therapy for the Spinal Muscular Atrophy. But the work is not done yet. Several other therapies are on the way that will change the life of the affected patients and eventually lead to a cure.