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Related Experiment Video

Updated: Feb 10, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Economic Modeling Considerations for Rare Diseases.

Isobel Pearson1, Ben Rothwell1, Andrew Olaye2

  • 1RTI Health Solutions, Manchester, UK.

Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research
|May 14, 2018
PubMed
Summary

Economic modeling for rare diseases faces challenges due to limited data. Strategies like using patient feedback and analogue data help demonstrate orphan product value in health technology assessments.

Keywords:
costs and cost analysiseconomiceconomicsmedicalmodelsrare diseases

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Area of Science:

  • Health economics
  • Orphan product evaluation
  • Rare disease research

Background:

  • Economic models for rare diseases often lack sufficient data for feasibility and rigor.
  • Manufacturers face challenges in demonstrating the value of orphan products with limited study data.

Purpose of the Study:

  • Identify challenges in economic modeling for rare diseases.
  • Outline strategies used in health technology assessment (HTA) submissions for orphan products with limited data.

Main Methods:

  • Conducted targeted reviews of PubMed, NICE Highly Specialised Technologies (HST), and Scottish Medicines Consortium (SMC) ultra-orphan submissions.
  • Analyzed 19 PubMed studies, 3 NICE HSTs, and 11 SMC submissions.

Main Results:

  • Rare disease modeling is impacted by incomplete efficacy/safety data, limited natural history/epidemiology data, and restricted cost burden information.
  • Challenges include inaccurate estimation of product benefits versus costs.
  • Effective strategies involve patient/clinician feedback, disease analogue data, matching-adjusted indirect comparisons, and long-term data collection.

Conclusions:

  • Modeling in rare diseases presents significant challenges.
  • Various approaches can support model development, parameter collation, and uncertainty management for orphan products.