Spinal Muscular Atrophy (SMA) Disease

Published Date : Sep 2023
Category : Genetic Diseases
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Spinal Muscular Atrophy: A Disease of Younger Generation

Spinal Muscular Atrophy (SMA) is the second most frequently acquired autosomal recessive disease in children and the most common fatal autosomal recessive disorder. Rewriting the natural history of Spinal Muscular Atrophy (SMA) to improve the outlook of disease with breakthroughs in medical therapy for a healthier future for patients is essential. As per the National Institute of Health, the prevalence of SMA is measured as 1 to 2 in 100,000 persons in the world.

NIH states that the incidence of SMA globally is approximately 10 in 100,000 live births in which one in every 6,000 infants is affected by SMA. It is believed that around 10,000 children and adults in the United States are affected by SMA, and approximately one in every 50 Americans is a genetic carrier for SMA. 

The common symptoms of Spinal Muscular Atrophy are gradual muscle weakening, breathing difficulties, dysphagia diminished tone, cardiomyopathy, and the elimination of alpha motor neurons in the spinal cord. Spinal Muscular Atrophy is the second most prevalent cause of autosomal recessive hereditary-related mortality after cystic fibrosis.

However, around 95% of cases of Spinal Muscular Atrophy are caused by a homozygous deletion at 5q13, which is the coding region for the survival motor neuron (SMN1) gene which causes abnormal protein synthesis. Whereas ~5% of people with SMA are heterogeneous, with one genotype having an exon 7 deletion in SMN1 and another having an unusual point mutation.

Depending on age onset Spinal Muscular Atrophy is divided as Type I to Type IV. SMA Type I also known as Werdnig-Hoffman disease is the most severe and affects children within the first six months of life and about 60% of SMA cases are Type I cases. While SMA Type II affects the child of 6 to 18 months older and represents ~20% to 30 % of SMA cases. In addition to that, Type 3 SMA appears in children aged 18 months or older and accounts for ~10% to 20% of cases. Type IV SMA develops in adults which is rarely severe according to NIH.

SMA has no effect on mental abilities emotional development, learning or academic aptitude, or sensory abilities. The quality of life and life expectancy of people with SMA are increasing as a result of medical and scientific advances in diagnosis and therapy.

The development of new techniques and novel products for the treatment and diagnosis of Spinal Muscular Atrophy has been considered an essential part of increasing the opportunities for the industry player. As a result, it contributes to the outsourcing of the expanding items.

DiseaseLandscape Insights assists in making informed judgments in the field of medical technology, medicines, and diagnostics, where different technologies and spectacular breakthroughs will alter the landscape, resulting in increased growth.

Spinal Muscular Atrophy Diagnostic Analysis-

"Spinal Muscular Atrophy Diagnostic Advancement: Improving Patient Care"

The symptoms of spinal muscular atrophy are similar to those of a variety of other muscle-related illnesses so, there is a need to diagnose it with accurate and specific tests. The physical examination and family history are the initial way to distinguish SMA from other diseases. However, for accurate diagnosis of Spinal Muscular Atrophy following tests are performed -

  1. Genetic Test

Genetic test helps in the detection of deletion in homozygous SMN1 gene and missing in exon 7 or exon 8 in SMN1 gene which gives accurate results for Spinal Muscular Atrophy. The genetic test shows 95% sensitivity and 100% specificity for the detection of SMA as per NIH.


  1. Blood Tests

If the genetic tests are negative but the clinical features of the patient suggest SMA the blood tests are performed to check the level of enzyme called creatine kinase. Creatine kinase leaks out from the muscles of patients who are suffering from neuromuscular illness. Blood tests detect SMA Types I, II, and III in at least 95% of cases and also indicate if a person is a carrier for SMA.


  1. Electromyography 

Electromyography is used to check the electric impulses of muscles during contraction and relaxation. Electromyography detects features like dropout and enlargement in motor unit action potential, fibrillation potential, and active denervation which helps physicians to confirm SMA disease. Although these potentials are rarely recorded, 75% of patients in a specific study possessed them.


  1. Real-time Polymerase Chain Reaction

After electromyography has proven the existence of a motor neuron disease, semiquantitative tests like the real-time Polymerase Chain Reaction (PCR) are carried out. This test estimates the copies of the SMN1 gene. This elevates the detection sensitivity overall to 98%.


  1. Muscle Biopsy

In severe cases of SMA muscle biopsy technique is recommended. The small portion of the infected muscle is extracted and examined under the microscope. At the microscopic level, the severity of SMA is detectable in an accurate way but muscle biopsy cannot differentiate between subtypes of SMA and hence it is no longer used to diagnose the SMA.

Among all the tests listed above, real-time PCR followed by genetic testing is the most accurate test used for the diagnosis of Spinal Muscular Atrophy. The reason behind this is that these tests detect the major biomarker for the SMA. These tests help in detecting the severity as well as subtypes of SMA in the patients which guides the physician to address the treatment plan for SMA patients.

The market for diagnosing Spinal Muscular Atrophy is extremely competitive and booming. Market participants should use new technology to produce a variety of diagnostic kits. The development of rapid, low-cost diagnostic tests is also crucial in the diagnosis of Spinal Muscular Atrophy.

DiseaseLandscape Insights assists the industry leader in the use of new technologies for improving the existing diagnostic method and provides data on current market players and their products for more knowledge about market dynamics. By using the data from DLI, stakeholders choose the path of their business and implement strategies for the growth of the market.

The following table lists the names of the market leaders who are redefining healthcare with their forefront diagnostic innovations and their product names used for the diagnosis of SMA:

Diagnostic Market Players


Elitech Group

AncestryDNA kit

Perkin-Elmer Inc.

Eonis SCID-SMA Kit

Human-Device Interaction Lab

Electromyography (EMG) plus Inertial Measurement Unit (IMU) Sensor System


SYBR® Green I Assay

PHC Corporation


Randox Laboratories

Randox CK-MB Reagent

Spinal Muscular Atrophy Treatment Analysis-

“Modernizations in Treatment: One Step Towards the Healthy Life”

There are various treatment options available to reduce the complications and manage the symptoms of SMA. Developments in the understanding of fundamental pathophysiology and innovations in therapies following treatment options are used-

  • Disease-modifying therapy (Medications)

Medications are used to slow the progression of SMA and reduce the symptoms of the SMA. Medications stimulate the synthesis of SMN protein at a certain level. Following are the FDA-approved drugs used to treat the Spinal Muscular Atrophy

  • Nusinersen (Spinraza™) – It is the first drug approved to treat Spinal Muscular Atrophy for children as well as adults. Nusinersen (Spinraza™) is given intravenously, with a recommended dose of 12 mg (5 mL) each administration, and a total of 4 loading doses is given to the patient.
  • Risdaplam (Evrysdi®) - Risdaplam (Evrysdi®) medicine targets the defective gene's backup copy in patients at 2 months of age and is administered as a liquidnce daily. Side effects of risdaplam (Evrysdi®) are fever, rash, lung infections, constipation, vomiting, and cough.
  • Gene Replacement Therapy

Gene Replacement Therapy helps in the substitution of defective or absent SMN1 genes with normal genes. A safe virus transfers a fully functioning human SMN gene into the targeted motor neurons of patients and hence improves muscle movement, function, and survival.

  • Onasemnogene abeparvovec-xioi (Zolgensma®) is the drug used in gene replacement therapy in children younger than 2 years. onasemnogene abeparvovec-xioi (Zolgensma®) is a one-time intravenous infusion drug that causes various side effects like easy bleeding, odd bruising, and purple or red areas under your skin. The launching of this product has increased the life expectancy of patients and enhanced patient health.

There are multiple opportunities for business firms in the realm of the Spinal Muscular Atrophy treatment market. The market players focus on the production of diverse cost-effective therapy products, as well as the redevelopment of current medicines via the use of new technologies to enhance patient health while increasing the profit of the company.

Market participants tap into DiseaseLandscape Insights' market research and consulting services to explore and flourish in the SMA treatment industry. We help clients stay stronger and ahead of the competition by doing in-depth analyses of treatment alternatives, new goods, and technology. DLI provides substantial assistance in the planning, execution, and evaluation of clinical studies for novel medication development.

The below table shows the names of drugs, market player mechanism of action of medication, and route of application which is transforming the SMA landscape and improving the patient's health-

Drug Name

Market Player

Mechanism of Action

Route of Application

Nusinersen (Spinraza™)




RG7916 (Risdiplam)


Small molecule/splicing modifier

Oral intake

LMI070 (Branaplam)


Small molecule/splicing modifier

Oral intake

AVXS-101 (Zolgensma)

Avexis and Novartis




Scholar Rock

Myostatin Inhibotor



Hoffmann-La Roche


Oral intake

Onasemnogene abeparvovec-xioi (Zolgensma®)

Novartis Gene Therapies, Inc



Risdaplam (Evrysdi®)

Genentech, Inc.

mRNA splicing modifier

Oral intake


Services Provided by DiseaseLandscape Insights in the continuously Expanding Spinal Muscular Atrophy Disease Market

"Data-Driven Tactics to Promote the Progression of the Businesses"

DiseaseLandscape Insights provides the market framework and general details about healthcare components for Spinal Muscular Atrophy. DLI guides market players about new developments in the diagnostic and treatment field. DLI services include long-term planning for the important participants in the dynamics of illness, market analysis of research and advancements in the drug discovery phase, risk assessment of new pharmaceuticals, and product launch growth. 

DLI aids with regulatory body documentation, clinical and drug safety records, and other medication-related paperwork. DLI brings information from a wide range of journal articles, publication abstracts, instructional marketing materials, and the websites of major medical organizations to make available for stakeholders.

Understanding the services of DiseaseLandscape Insights helps the market players including healthcare providers, researchers, and organizations to evaluate the existing management, and identify the gaps for improvement and development of strategies in the market.

The commercial aspect of Spinal Muscular Atrophy disease concentrates on a range of services and products, from management and prevention to further therapy and research. The services offered to start the worldwide epidemic eradication procedure are listed below.

  • For the treatment of people with rare diseases like SMA, the government introduced the National Policy for Rare Diseases (NPRD), 2021 in March. The NPRD, 2021 contains provisions for promoting research and development for the diagnosis and treatment of rare diseases, such as SMA; encouraging local drug development and manufacture; and creating an environment that will allow for the affordable indigenous manufacturing of medicines for these diseases.

Regulatory Framework for Spinal Muscular Atrophy

"Protecting Public Health: Building a Stable Regulatory Framework for Spinal Muscular Atrophy”

DiseaseLandscape Insights considers the regulatory ecosystem of different countries for Spinal Muscular Atrophy disease. DLI provides data about risk assessment laws, import/export legislation, and surveillance to the key player. By choosing DLI services market players definitely prevent and respond to Spinal Muscular Atrophy outbreaks for the safety and well-being of the impacted population.

However, to encourage industry participants Production Linked Incentive Scheme for Pharmaceuticals is being implemented by the Department of Pharmaceuticals.  The Program offers financial incentives to firms chosen under the Program to produce a variety of goods for SMA therapies domestically, including Orphan medicines. Key players in the SMA industry expand their research and business by using such schemes.

Additionally, the Department of Revenue and Ministry of Finance, in their Notification, have granted an exemption from Basic Customs Duty to drugs or medicines used in the treatment of rare diseases like SMA when imported by Centres of Excellence (CoEs). 

Overall, regulatory rules and regulations have a considerable impact on the Spinal Muscular Atrophy market, and DLI offers a thorough analysis of the many regional guidelines that are now in effect as well as prospective future changes.

Competitive Analysis

"Providing Organizations with an Inexpensive Edge in the Spinal Muscular Atrophy Market”

Several worldwide industries are concentrating on developing new products and enhancing the use of technology for the improvement of existing techniques to boost their competitive position. To broaden their selection of products, industries are also working on growth initiatives, which principally involve regulatory approval for medication research, acquisition partnerships, and a focus on cooperation.

 However, competitors like AveXis, Inc. are developing a gene therapy product called AVXS-101 which is in the clinical trial phase. Based on initial phase data, AVXS-101 is a one-time treatment for the SMA Type I and Type II and targets motor neurons. Successful results from AVXS-101 gene therapy definitely improve the patient's health. Also, launching this product in the market enhances the economic pyramid of AveXis, Inc.

In addition to that companies like Hoffmann-La Roche Ltd have developed risdiplam drugs to treat Spinal Muscular Atrophy patients. Risdiplam helps to increase and sustain the level of SMN protein in CNS and PNS. Manufacturing of such products has increased the awareness of drugs and also guided people on the importance of the launched product. However, new development has increased the collaboration of Hoffmann-La Roche Ltd and set another standard for market players involved in the SMA treatment field.

DiseaseLandscape Insights assists industry companies by giving extensive knowledge about all current market players, their inventions, tactics, and partnerships, as well as assisting in the selection of the appropriate marketplace to grow exponentially.

Market trends

"Market Interpretation for Stronger Business Strategies"

The market for Spinal Muscular Atrophy is growing worldwide because there is a need for the development of various cost-efficient diagnostic techniques and innovations in new treatment products for the complete cure of Spinal Muscular Atrophy. In-depth research is required to formulate new therapies and other treatment options for Spinal Muscular Atrophy.

However, there are only 3 therapies approved that increase the SMN protein level. The development of more therapies to enhance SMN protein synthesis is an emerging field in the SMA disease market. Key players enter this domain with innovative approaches and comprehensive strategies that expand the business and ultimately the revenue.

Furthermore, introducing long-term effects drugs with lesser side effects is trending in the market. Research and developments in drugs with long-term effects improve the patient's health. An invention in this market has created an opportunity for industry players to grow continuously.

All in all, advancements in research and development for the diagnosis and treatment of Spinal Muscular Atrophy have boosted the opportunities for a wide range of market players. Manufacturing diagnostic kits, developing innovative therapies, and producing new medicines have increased market size and, consequently, the revenue of current key players. The establishment of rules and regulations in the research industry, regulatory approval, government efforts for patient health, and innovative technologies have all increased the market's impact.

Clinical Trial Data Assessment

The relevance of clinical trials in the practice of evidence-based medicine and health care reform is highlighted by the government's growing emphasis on comparative effectiveness studies. One of the main goals of health care reform is accomplished by market participants appropriately comparing medical therapy with the use of clinical data.

The table below includes the study titles of the ongoing clinical trials as well as the stages at which they are taking place.

Phase I

Phase II

Phase III

Phase IV

A Multi-center, Open Label, Single-arm, Dose Ascending Clinical Trial for Evaluation of Safety and Efficacy of Gene Therapy Drug GC101 in the Treatment of Spinal Muscular Atrophy (SMA) Type 1 Patients

A Phase 2, Randomised, Double-blind, Placebo-controlled, 2-way Crossover Study to Evaluate the Efficacy, Safety, and Tolerability of NMD670 in Ambulatory Adults With Type 3 Spinal Muscular Atrophy

A Phase 3b Study to Evaluate Higher Dose Nusinersen (BIIB058) in Patients With Spinal Muscular Atrophy Previously Treated With Risdiplam

A Phase 4 Study of Nusinersen (BIIB058) Among Patients With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvovec

An Open-Label, Non-Comparative Clinical Study of the Safety and Efficacy of an Adeno-Associated Viral Vector Carrying the SMN Gene (ANB-004 (JSC BIOCAD, Russia)) After a Single Intravenous Administration of Escalating Doses in Children With Spinal Muscular Atrophy

A Two-Part, Seamless, Multi-Center, Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7204239 in Combination With Risdiplam (RO7034067) in Patients With Spinal Muscular Atrophy

A Randomized, Sham-controlled, Double-blind Study to Evaluate the Efficacy and Safety of Intrathecal OAV101 in Type 2 Spinal Muscular Atrophy (SMA) Patients Who Are ≥ 2 to < 18 Years of Age, Treatment Naive, Sitting, and Never Ambulatory

Long-Term Follow-Up Study of Patients With Spinal Muscular Atrophy Receiving Risdiplam Treatment

A Multicenter, Nonrandomized, Open-label,Dose Escalation Clinical Trial to Assess the Safety and Efficacy of EXG001 307 After Intravenous Injection in Patients With Spinal Muscular Atrophy Type 1

A Multi-center, Open Label, Single-arm, Dose Ascending Clinical Trial for Evaluation of Safety and Efficacy of Gene Therapy Drug GC101 in the Treatment of Spinal Muscular Atrophy (SMA) Type 1 Patients

Phase 3, Double-Blind, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Apitegromab (SRK-015) in Patients With Later-Onset Spinal Muscular Atrophy Receiving Background Nusinersen or Risdiplam Therapy


A Randomized, Blinded, Placebo-Controlled, Phase 1 Single Ascending Dose Study in Healthy Adult Male Volunteers and an Open-Label Multiple Ascending Dose Study in Pediatric SMA Participants Previously Treated With Onasemnogene Abeparvovec (Zolgensma™) to Evaluate the Safety, Tolerability, and Pharmacokinetics of BIIB115

An Open-Label, Non-Comparative Clinical Study of the Safety and Efficacy of an Adeno-Associated Viral Vector Carrying the SMN Gene (ANB-004 (JSC BIOCAD, Russia)) After a Single Intravenous Administration of Escalating Doses in Children With Spinal Muscular Atrophy

Phase IIIb, Open-label, Single-arm, Multi-center Study to Evaluate the Safety, Tolerability and Efficacy of OAV101 Administered Intrathecally (1.2 x 10^14 Vector Genomes) to Participants 2 to 12 Years of Age With Spinal Muscular Atrophy (SMA) Who Have Discontinued Treatment With Nusinersen (Spinraza®) or Risdiplam (Evrysdi®)


A Phase 1/2a, Randomized, Double-Blind, Placebo-Controlled, First-In-Patient Study Of AJ201 To Evaluate Safety, Tolerability, Pharmacokinetics, And Pharmacodynamics In Adults With Spinal And Bulbar Muscular Atrophy (SBMA)

A Multicenter, Nonrandomized, Open-label,Dose Escalation Clinical Trial to Assess the Safety and Efficacy of EXG001 307 After Intravenous Injection in Patients With Spinal Muscular Atrophy Type 1

Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 IT or OAV101 IV in Clinical Trials



DiseaseLandscape Insights (DLI) assists manufacturers in developing and implementing viable remedies to interrupt and manage Spinal Muscular Atrophy outbreaks. Furthermore, there is an increasing need for diagnostic tools, clinical evaluations, and Spinal Muscular Atrophy gene therapy as a result of greater awareness and estimated epidemics.

DiseaseLandscape Insights offers essential knowledge and expertise to major stakeholders involved in the manufacture of therapeutic goods. DiseaseLandscape Insights' support makes it easier for market participants to organize and carry out clinical trials for innovative medicines and pharmaceuticals, patient recruiting tactics, and regulatory compliance.

This allows market leaders to do concentrated R&D, learn about contract manufacturing organizations, discover raw material suppliers, and assure legal compliance for the business. DiseaseLandscape Insights (DLI) assists all market participants in gaining a stronger foothold in the Spinal Muscular Atrophy sector.

Vishal SawantBusiness Development

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