Approximately 80% of rare diseases have a genetic etiology. Gene therapies hold the potential to transform the treatment of rare diseases and may provide a functional cure for some. However, these innovative new treatments must come with equally innovative programs to optimize access in a global healthcare market that is still grappling with how to fairly assess their value and absorb their higher upfront costs. Nonetheless, the pipeline for gene therapies is burgeoning, as large pharmaceutical companies (e.g., Novartis, Johnson & Johnson) take an increasing stake in this arena. Here, we explore the clinical and commercial potential of gene therapies in key therapeutic areas (i.e., neurology, ophthalmology, and hematology).


  • What are the sizes of the eligible populations for gene therapies in key indications across the G7?
  • What are the key advantages and disadvantages of marketed gene therapies, and where do clinicians want to see improvements?
  • As potential single-administration cures, how will the treatment-eligible population change over time in indications served by a gene therapy?
  • Who are the key decision makers for gene therapy purchases and administration?
  • What are the key drivers of and barriers to the adoption of gene therapies?
  • What type of clinical trial data will be necessary to support the adoption and reimbursement of gene therapies?
  • What is the clinical and commercial potential of emerging gene therapies in key therapy areas (e.g., ophthalmology, neurology)?


United States, EU5, Japan


Approximately 20 country-specific interviews with thought-leading gene therapy experts. Supported by survey data collected for this and other DRG research.


Diagnosed prevalent and/or incident patient populations eligible for gene therapies in covered indications.


Ten-year, annualized, drug-level sales and patient share of key gene therapies through 2028.


Pipeline gene therapy coverage for select indications across therapy areas, including hematology, ophthalmology, and neurology.


Disease Landscape & Forecast provides comprehensive market intelligence with 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

  • Disease Landscape & Forecast: Gene Therapies for Rare Diseases
    • Key Findings
      • Gene Therapies for Rare Diseases-Key Findings- September 2019
    • Market Outlook
      • Key Findings
      • Market Drivers and Constraints
        • What Factors Are Driving the Market for Gene Therapies?
        • What Factors Are Constraining the Market for Gene Therapies?
      • Drug-Specific Trends
        • Luxturna
        • GS010
        • BIIB-111
        • Zolgensma
        • Microdystrophin Gene Therapies
        • Zynteglo
      • Alternative Market Scenarios
    • Forecast
      • Market Forecast Assumptions Gene Therapies for Rare Diseases (2018-2028) September 2019
      • Market Forecast Dashboard Gene Therapies for Rare Diseases (2018-2028) September 2019
    • Gene Therapy Technologies
      • Monogenic Diseases
      • Gene Therapy Technologies
        • Overview
        • Gene Replacement
        • Antisense Oligonucleotides
        • Gene Editing
      • Major Milestones in Gene Therapy Development
      • Key Pathways and Drug Targets
    • Epidemiology
      • Key Findings
      • Epidemiology Populations
        • Ophthalmology
        • Neurology
        • Hematology
    • Current Treatment
      • Diagnosis
        • Diagnosis of Genetic Diseases
      • Key Challenges for Developing Gene Therapies
        • Developmental Challenges
        • Adoption Challenges
      • Inherited Retinal Diseases
        • Overview
        • Disease Presentation and Diagnosis
        • Patient Burden
        • Current Therapies for Inherited Retinal Diseases
      • Spinal Muscular Atrophy
        • Overview
        • Disease Presentation and Diagnosis
        • Patient Burden
        • Current Therapies for Spinal Muscular Atrophy
      • Duchenne Muscular Dystrophy
        • Overview
        • Disease Presentation and Diagnosis
        • Patient Burden
        • Current Therapies for Duchenne Muscular Dystrophy
      • Beta Thalassemia
        • Overview
        • Disease Presentation and Diagnosis
        • Patient Burden
        • Current Therapies
      • Guidelines for Gene Therapy Development
        • Guidelines for Developing Gene Therapies
    • Unmet Need Overview
      • Current and Future Attainment of Unmet Needs in Gene Therapies
    • Emerging Therapies
      • Key Findings
      • Key Emerging Therapies
        • Inherited Retinal Diseases
        • Duchenne Muscular Dystrophy
        • Beta Thalassemia
      • Early-Phase Pipeline Analysis
    • Access & Reimbursement Overview
      • Key Market Access Considerations for Gene Therapy
      • Region-Specific Reimbursement Practices
        • United States
        • EU5
        • Japan
      • Looking for More?
    • Methodology
      • Bottom-Up Forecasting Overview
        • Patient Populations
        • Drug-Specific Assumptions
      • Bottom-Up Forecast Assumptions
        • General Sources of Data
        • General Statements About Pricing
        • Dosing, Days of Therapy, and Compliance
        • Out-Year Forecasting
        • Emerging Therapy Prices
      • Primary Market Research
        • Experts Interviewed
    • Appendix
      • Gene Therapies for Rare Diseases Bibliography

Author(s): Raina Priyadarshini, Ph.D; Arndt TJ; Archita Kukreja; Pallavi Rajput, Ph.D

Raina is a senior analyst on the Infectious, Rare, and Niche Diseases team at Decision Resources Group. Before joining DRG, Raina worked in drug development for novel disease targets. She gained experience assessing market research and competitive intelligence in rare disorders in multiple therapy areas. She holds a in molecular biology from the National Institute of Immunology in India.

joined Decision Resources Group in 2018 as an entry-level epidemiologist and previously worked in basic sciences research academia. earned his Masters in Public Health from the University of Florida, where he conducted an internship focused on developing a clinical model to non-invasively screen for Non-Alcoholic Steatohepatitis (NASH). He also holds a in Microbiology & Cell Science and a in Spanish, both from the University of Florida. During his undergraduate and graduate career, he worked in two physiology-based research labs at the University of Florida, focusing on maternal and fetal stresses during pregnancy and parturition.

Archita is a member of Decision Resources Group’s Infectious, Niche, and Rare Diseases (INRD) team. In this role she works on a range of antibacterial and antiviral indications as well as numerous niche and rare diseases. Archita holds a Masters in Science degree in biotechnology from Jamia Millia Islamia, New Delhi and has completed her MBA from Amity University, Noida.

Pallavi Rajput joined Decision Resources Group as an associate analyst in 2019. Her focus is on the disease landscape and forecast of infectious diseases, niche and rare diseases. She holds a in molecular biology and virology from the International Centre for Genetic Engineering and Biotechnology, New Delhi, India. Prior to joining Decision Resources Group, Pallavi was a postdoctoral fellow at the University of California- Davis, where her research focused on the role of DNA repair in cancer development.

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