Scientists track Ultra-Rare, often fatal childhood disease to pave way for future cures

NCT ID NCT03478839

Summary

This study aimed to learn more about two very rare and serious genetic diseases, GACI and ARHR2, which can be fatal in infancy or cause lifelong health problems. Researchers collected medical information from 48 affected individuals and their family members to map out how these diseases progress over time. The goal was to gather essential knowledge to help design and test future treatments for these conditions.

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Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

Conditions

Explore the condition pages connected to this study.