15-Year checkup: tracking the health of rare disease patients treated since childhood

NCT ID NCT04002531

Summary

This study followed up with five adults who have Fabry disease, a rare genetic disorder, to see how they are doing after receiving enzyme replacement therapy (ERT) since childhood—about 15 years total. Researchers checked their kidney and heart function, pain levels, and quality of life to understand the long-term effects of starting this treatment early. The goal was to gather rare, long-term data to help doctors better manage this condition.

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Contacts and locations

Locations

  • Baylor University Medical Center

    Dallas, Texas, 75246, United States

Conditions

Explore the condition pages connected to this study.