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Area of Science:

  • Genetics and rare diseases
  • Pharmacology and drug development
  • Lysosomal storage disorders

Background:

  • Fabry disease (FD) is a rare X-linked lysosomal storage disorder.
  • Enzyme replacement therapy (ERT) was developed with high expectations for FD treatment.
  • Current real-world effectiveness of ERT for FD is disappointing, with inadequate evidence.

Purpose of the Study:

  • To critically evaluate the development and effectiveness of ERT for Fabry disease.
  • To identify shortcomings in the evidence gathering and authorization process for FD ERT.
  • To propose improvements for future drug development using adaptive pathways.

Main Methods:

  • Retrospective analysis of ERT development and authorization for Fabry disease.
  • Evaluation of existing evidence on ERT effectiveness.
  • Identification of potential benefits of adaptive pathways in drug development.

Main Results:

  • Limited convincing evidence on ERT effectiveness existed at the time of authorization.
  • Post-marketing evaluations failed to generate sufficient relevant data.
  • Shortcomings identified in the development and evaluation process of FD ERT.

Conclusions:

  • The development of ERT for Fabry disease had significant shortcomings.
  • Inadequate evidence gathering and post-marketing evaluation have hampered effectiveness assessment.
  • Adaptive pathways, involving stakeholders and robust data collection, could improve future ERT development for rare diseases like FD.