Understanding the natural history of an inherited rare disease

A global rare disease specialty pharmaceutical company sought to evaluate the attractiveness of different physician specialty targets.

CRA approach

  • Conducted an extensive literature review on the rare disease to understand its natural history and collect reported prevalence of its typical clinical features
  • Conducted primary research with KOLs and specialty physicians to validate and detail understanding of natural history and referral patterns
  • Created a prevalence-based model systematically evaluating attractiveness of lead symptomatologies (single clinical features or combinations thereof) along eight-dimensional attractiveness grid

Client impact

  • Identified primary and secondary specialty targets, taking into account main competitor’s actions
  • Created transparency on most current scientific literature and medical details of all lead symptomatologies and identified knowledge gaps
  • Quantified patient opportunity by lead symptomatology and specialty based on this study and studies conducted in parallel
  • Derived hypotheses on how to approach physicians to support patient finding
Countries Involved


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