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

  • Rare Diseases And Orphan Drugs - Landscape & Forecast - Disease Landscape & Forecast: Gene Therapies For Rare Diseases

Author(s): Raina Priyadarshini, Ph.D; Archita Kukreja; T.J. Arndt, MPH, CPH

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 Ph.D. in molecular biology from the National Institute of Immunology in India.

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.

T.J. joined Decision Resources Group in 2018 as an entry-level epidemiologist and previously worked in basic sciences research academia.

T.J. 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 B.S. in Microbiology & Cell Science and a B.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.

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