Decades-Long mystery: researchers map rare disease in closed communities

NCT ID NCT03159026

Summary

This study aimed to understand the long-term health effects of a rare, inherited form of propionic acidemia found in Amish and Mennonite communities. Researchers reviewed the lifelong medical records of 38 known patients with this specific genetic variant. The goal was to gather information to create better, evidence-based care plans, especially for managing potential heart problems.

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Contacts and locations

Locations

  • Children's Hospital of Pittsburgh

    Pittsburgh, Pennsylvania, 15224, United States

Conditions

Explore the condition pages connected to this study.