New test could spot rare genetic disorders earlier

NCT ID NCT04201067

Summary

This study aimed to see if a new, broad metabolomic testing method could better diagnose rare inborn errors of metabolism than older tests. Researchers analyzed leftover samples from 240 people with these genetic conditions. The goal was to find better biomarkers to help identify these disorders and potentially track how well treatments work.

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Contacts and locations

Locations

  • Mayo Clinic in Rochester

    Rochester, Minnesota, 55905, United States

Conditions

Explore the condition pages connected to this study.