New registry tracks pregnancy in women with rare metabolic diseases

NCT ID NCT02322177

First seen Jun 24, 2026 · Last updated Jul 17, 2026 · Updated 12 times

Summary

This study created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to better understand how these conditions impact pregnancy and child development, without any extra tests or treatments.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to
If successful, this registry could help doctors better understand how inborn errors of metabolism affect pregnancy and baby health, guiding future care.
What could go wrong
This is a very small, completed registry with only 2 participants, so findings may not apply broadly. It only collects existing data, not testing new treatments.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

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

More trials for these conditions

Other studies related to the condition(s) this trial covers.