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Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol

NCT02322177 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 2

Last updated 2026-05-01

No results posted yet for this study

Summary

Background:

\- People with inborn errors of metabolism can t turn food into energy the right way. This can affect a person s growth and health. Researchers want to know how this condition affects a pregnant woman and her baby.

Objectives:

\- To collect data from the medical records of women with an inborn error of metabolism. Also, to create a pregnancy registry of inborn errors of metabolism.

Eligibility:

* Women with an inborn error of metabolism who either:
* have been pregnant in the past,
* are currently pregnant, or
* have recently talked with their doctor about becoming pregnant.

Design:

* This study will collect data only. No extra tests will be done.
* Participants will be in the study for the length of their pregnancy and for 1 year after delivery.
* Participants will answer questions about their family s health.
* The participant s doctor will send their medical records to researchers. These may include data about:
* Last health care visit before pregnancy
* Blood, urine, ultrasound, or lab results during pregnancy
* Delivery and recovery after delivery
* Researchers will ask for the test(s) used to confirm pregnancy.
* After the participant has her baby, researchers will ask for data about how the baby is doing. This may include when the baby is sitting, walking, talking, etc.
* The data will be placed into a database. The database will not include the participant s name or identifying data.

Conditions

  • Inborn Errors of Metabolism
  • Pregnancy
  • Acidemias

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Charles P Venditti, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
14 Years
Max Age
50 Years
Sex
FEMALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-12-19
Primary Completion
2018-08-20
Completion
2018-08-20

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02322177 on ClinicalTrials.gov