Rare Diseases and Orphan Drugs – Landscape & Forecast – Disease Landscape & Forecast

Approximately 80% of rare diseases have a genetic etiology. Gene therapies have the potential to transform the treatment of rare diseases and, in some cases, provide a functional cure. However, these innovative treatments must come with equally innovative programs to optimize access in a global healthcare market that is still grappling with how to fairly assess these therapies’ value and absorb their high upfront costs. Nonetheless, the pipeline for gene therapies is burgeoning, as large pharmaceutical companies (e.g., Pfizer, Roche, Novartis) assume increasing stakes in this arena. In this content, we explore the clinical and commercial potential of gene therapies (e.g., Luxturna, Zolgensma, Skysona) in key therapeutic areas (i.e., neurology, ophthalmology, and hematology).


  • What are the sizes of the eligible populations for gene therapies in key indications in the G7?
  • What are the main 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?
  • What are the key drivers of and barriers to the adoption of gene therapies?
  • What kind of clinical trial data is necessary to support adoption and reimbursement of gene therapies?
  • What is the clinical and commercial potential of emerging gene therapies in key indications (e.g., Duchenne muscular dystrophy, Leber hereditary optic neuropathy, cerebral adrenoleukodystrophy)?

United States, EU5, Japan


More than 25 country-specific interviews with thought-leading neurologists, ophthalmologists, and hematologists. Supported by survey data collected for this and other Clarivate research.


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


10-year, annualized, drug-level sales and patient share of key gene therapies through 2032, segmented by brands / generics, geography, and key indications.


Pipeline gene therapy coverage for select indications across therapy areas.


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.


Disease Landscape & Forecast will feature continual updates to provide timely insights and analyses as meaningful indication-specific news and events unfold.

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