Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive muscle weakness due to the loss of anterior horn motor neurons. Nearly all cases of SMA are caused by homozygous deletion of mutation of the SMN1 gene. SMA ranges widely in severity, and symptom onset usually occurs during childhood. In its most serious form, SMA is lethal in infancy. Until recently, no treatments existed for SMA. Biogen/Ionis’s antisense therapy Spinraza now offers a targeted treatment option for SMA patients, and several exciting pharmacological (e.g., Roche’s RG-7916) and gene (Novartis/AveXis’s AVXS-101) therapies are in late-stage development, seeking to capitalize on pressing unmet treatment need in this devastating condition.

Questions Answered

  • How large is the treatable SMA population and how will its size change between 2017 and 2027?
  • What is the current state of treatment in spinal muscular atrophy? How many patients within each disease subtype are receiving Spinraza?
  • What clinical needs remain unfulfilled?
  • What pipeline products are viewed by spinal muscular atrophy treatment providers as most promising, and what sales/uptake will they achieve in spinal muscular atrophy? Which notable early-stage therapies are progressing through development?
  • What are the drivers and constraints in the spinal muscular atrophy market, and how will the market evolve over the forecast period?

Product Description

Niche & Rare Disease Landscape & Forecast: Comprehensive market intelligence providing world-class epidemiology, keen insight into current treatment paradigms, in-depth pipeline assessments, and drug forecasts supported by detailed primary and secondary research.

Table of contents

  • Spinal Muscular Atrophy - Landscape & Forecast - Disease Landscape & Forecast
    • Commercial Outlook
      • Key Findings
        • Regional Sales of Key Therapies to Treat Spinal Muscular Atrophy
        • Spinal Muscular Atrophy SWOT Analysis
      • Drivers and Constraints
        • What Factors Are Driving Sales in Spinal Muscular Atrophy?
        • What Factors Are Constraining Sales in Spinal Muscular Atrophy?
      • Drug-Class-Specific Trends
        • SMN2-Splicing Modulators
        • Troponin-Tropomyosin Complex Activators
        • SMN1 Corrective Therapies
    • Forecast
      • Sales of Key Therapies in Spinal Muscular Atrophy
    • Etiology and Pathophysiology
      • Disease Overview
        • Etiology
          • Homozygous Deletion of the SMN1 Gene
          • Mutations in SMN1
          • Non-5q SMAs
          • Genes Implicated in Non-5q SMAs
          • The SMN2 Gene: A Modifier of Disease Course and Severity
        • Pathophysiology
          • Critical Role of SMN in Anterior Horn Motor Neurons
          • The SMN Protein
          • Pathophysiological Processes in Spinal Muscular Atrophy
        • Spinal Muscular Atrophy Clinical Subtypes
          • Spinal Muscular Atrophy Clinical Presentation
            • Key Signs and Symptoms of Spinal Muscular Atrophy
          • Key Pathways and Drug Targets
          • Epidemiology
            • Key Findings
              • Epidemiology Populations
                • Disease Defintion
                • Methods
                • Sources Used for Diagnosed Prevalence of Spinal Muscular Atrophy
                • Diagnosed Prevalent Cases of Spinal Muscular Atrophy: 2017-2027
                • Disease Definition
                • Methods
                • Sources Used for Prevalence of Spinal Muscular Atrophy by Type
                • Diagnosed Prevalent Cases of Spinal Muscular Atrophy in the Major Pharmaceutical Markets by Subtype: 2017-2027
                • Number of Diagnosed, Drug-Treated Prevalent Cases, 2017-2027
            • Current Treatment
              • Key Findings
                • Diagnosis
                  • Diagnostic Tests
                  • Treatment Providers and Referral Patterns
                  • Expert Insight on Diagnosis of Spinal Muscular Atrophy
                • Treatment Goals
                  • Key End Points Used in Clinical Trials for Spinal Muscular Atrophy
                • Key Current Therapies
                  • Overview
                  • Mechanism of Action of Key Drug Classes Used for Spinal Muscular Atrophy
                  • Current Treatments Used for Spinal Muscular Atrophy
                  • Market Events Impacting the Use of Key Current Therapies in Spinal Muscular Atrophy
                  • Spinraza
                  • Clinical Trial Outcomes for Spinraza
                  • Advantages and Disadvantages of Spinraza
                  • Key Results from Select Clinical Trials Investigating Spinraza for the Treatment of Spinal Muscular Atrophy
                  • Ongoing Clinical Development of Spinraza
                  • Key Ongoing Clinical Trials of Spinraza in the Treatment of Spinal Muscular Atrophy
                  • Expert Insight: Spinraza
                  • Short-Acting Beta2 Agonists
                  • Clinical Trial Outcomes for Albuterol
                  • Advantages and Disadvantages of Albuterol
                  • Key Results from Select Clinical Trials Investigating Albuterol for the Treatment of Spinal Muscular Atrophy
                  • Expert Insight: Albuterol
                • Medical Practice
                  • Overview
                  • Spinraza
                  • Pulmonary Care
                  • Nutritional Support
                  • Orthopedic Care
                  • Spinal Muscular Atrophy Treatment Guidelines by Market
                  • Generalized Treatment Decision Tree for Spinal Muscular Atrophy
              • Unmet Need Overview
                • Current and Future Attainment of Unmet Needs in Spinal Muscular Atrophy
                • Top Unmet Needs in Spinal Muscular Atrophy: Current and Future Attainment
                • Expert Insight: Unmet Need in Spinal Muscular Atrophy
              • Emerging Therapies
                • Key Findings
                  • Pipeline Trends for Spinal Muscular Atrophy
                • Key Emerging Therapies
                  • Notable Developments Among Key Emerging Therapies for Spinal Muscular Atrophy
                  • Key Therapies in Development for Spinal Muscular Atrophy
                  • Estimated Launch Dates of Key Emerging Therapies for the Treatment of Spinal Muscular Atrophy
                  • Branaplam Profile
                  • Branaplam Clinical Development
                  • Key Ongoing Clinical Trials of Branaplam for the Treatment of Spinal Muscular Atrophy
                  • Expert Insight
                  • Expectations for the Launch and Sales Opportunity of Branaplam in Spinal Muscular Atrophy
                  • Risdiplam Profile
                  • Risdiplam Clinical Development
                  • Key Ongoing Clinical Trials of Risdiplam for the Treatment of Spinal Muscular Atrophy
                  • Expert Insight
                  • Expectations for the Launch and Sales Opportunity of Risdiplam in Spinal Muscular Atrophy
                  • Reldesemtiv Profile
                  • Analysis of the Clinical Development Program for Reldesemtiv
                  • Expert Insight: Reldesemtiv
                  • Expectations for Launch and Sales Opportunity of Reldesemtiv in Spinal Muscular Atrophy
                  • AVXS-101 Profile
                  • AVXS-101 Clinical Development
                  • Key Ongoing Clinical Trials of AVXS-101 for the Treatment of Spinal Muscular Atrophy
                  • Expert Insight
                  • Expectations for Launch and Sales Opportunity of AVXS-101 in Spinal Muscular Atrophy
                • Early-Phase Pipeline Analysis
                  • Notable Developments in the Early-Phase Pipeline for Spinal Muscular Atrophy
                  • Select Compounds in Early-Phase Development for Spinal Muscular Atrophy
                • Key Discontinuations and Failures in Spinal Muscular Atrophy
                  • Patient Registries
                    • Patient Registries for Spinal Muscular Atrophy
                    • Prominent Spinal Muscular Atrophy Patient Organizations
                  • Orphan-Drug Designation
                  • Access and Reimbursement Overview
                    • Looking for More?
                    • Region-Specific Reimbursement Practices
                      • Key Market Access Considerations in Spinal Muscular Atrophy: United States
                      • General Reimbursement Environment: United States
                      • Key Market Access Considerations in Spinal Muscular Atrophy: EU5
                      • General Reimbursement Environment: EU5
                  • Methodology
                    • Bottom-Up Forecasting Overview
                      • Patient Populations
                      • Drug-Specific Assumptions
                    • Bottom-Up Forecast Assumptions
                      • General Sources of Data
                      • Drug-Treatment Rate Assumptions in Spinal Muscular Atrophy
                      • Patient-Share Assumptions in Spinal Muscular Atrophy
                      • General Statements About Pricing
                      • Sources for Drug Prices
                      • 2017 Exchange Rates
                      • Price per Treated Day: 2017
                      • Price per Treated Day: 2027
                      • Dosing, Days of Therapy, and Compliance
                      • Out-Year Forecasting
                      • Emerging Therapy Prices
                    • Primary Market Research
                      • Experts Interviewed
                  • Appendix
                    • Key Abbreviations Related to Spinal Muscular Atrophy
                    • Brands, Marketers, and Generic Availability of Key Therapies for Spinal Muscular Atrophy by Market
                    • Spinal Muscular Atrophy Bibliography

                Author(s): Ian Love; Johnson Olabisi, MBBS, MSc

                Ian is an analyst on the Infectious, Niche, and Rare Diseases team at Decision Resources Group, specializing in niche and rare diseases. Ian conducts primary and secondary research to gauge the market landscapes of these diseases, thoroughly analyzing disease etiology, current treatments, unmet need, and emerging therapies expected to impact their respective markets.

                He received his doctorate in biomedical sciences from the University of Massachusetts Medical School and his B.S. in cell & molecular biology from the Worcester Polytechnic Institute. Prior to joining Decision Resources Group, Dr. Love was an Instructor in the Department of Internal Medicine at Virginia Commonwealth University.

                Johnson joined Decision Resources Group (DRG) in 2015 and with the Epidemiology team develops epidemiological populations forecasts for different infectious and non-communicable diseases with his particular interests in the oncology space.

                Prior to joining DRG, he trained as a community physician where he was involved in primary (patient) care, primary health care and various community research & activities. He has also supervised and coordinated various governmental and non-governmental public health projects. Johnson holds a Masters of Science in Public Health (Health Economics) degree from the London School of Hygiene and Tropical Medicine with a Masters in Epidemiology and Medical Statistics & a Medical degree from the University of Ibadan, Nigeria.