Hidden costs of rare disease treatment revealed in global study

NCT ID NCT04281537

Summary

This study aimed to understand the full burden of receiving enzyme replacement therapy for Fabry disease, a rare genetic disorder. Researchers observed 82 adult patients and their caregivers across multiple countries to measure the time doctors spent on infusions, the time and travel costs for patients and families, and how treatment affects work and quality of life. The goal was to gather real-world data on the challenges of managing this lifelong treatment.

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Contacts and locations

Locations

  • Amicus Therapeutics, Inc.

    Philadelphia, Pennsylvania, 19104, United States

  • Dokuz Eylul University Medical Faculty

    Izmir, Turkey (Türkiye)

  • Ege University Hospital

    Izmir, Turkey (Türkiye)

  • Gazi University Hospital

    Ankara, Turkey (Türkiye)

  • Instituto de Genética e Erros Inatos do Metabolismo (IGEIM)

    São Paulo, Brazil

  • Keio University Hospital

    Tokyo, Japan

  • National Taiwan University

    Taipei, Taiwan

  • Taipei Veterans General Hospital

    Taipei, Taiwan

  • Yokohama Municipal Citizen's Hospital

    Yokohama, Japan

Conditions

Explore the condition pages connected to this study.