Rare disease pregnancy registry seeks answers for moms and babies

NCT ID NCT02322177

First seen Nov 01, 2025 · Last updated Jun 13, 2026 · Updated 33 times

Summary

This study collected medical records from women with inborn errors of metabolism (conditions that affect how the body turns food into energy) who were pregnant or planning pregnancy. Researchers tracked their health and their baby's development for one year after birth. The goal was to create a registry to better understand these rare conditions during pregnancy.

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Contacts and locations

Locations

  • National Human Genome Research Institute (NHGRI)

    Bethesda, Maryland, 20892, United States

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

Conditions

Explore the condition pages connected to this study.