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

NCT02322177 | Completed

• 2 other identifiers: 15004915-HG-0049
• Study Type: observational
• Target: 2
• Locations: 1 country
• Sites: 2

Brief 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

Pregnancy; Acidemias; Inborn Errors of Metabolism

Keywords

Inborn Error of Metabolism; Pregnancy; Amino acid disorder; Fatty acid oxidation disorder; Organic Acidemia; Natural History

Outcome Measures

Primary Outcomes (1)

• Maternal inborn errors of metabolism

  Yearly

Study Arms (1)

1

Participants are women with inborn errors of metabolism who have been pregnant

Eligibility Criteria

• Age: 14 Years - 50 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Participants are women with inborn errors of metabolism who have been pregnant

You may qualify if:

• Patients clinically diagnosed with methylmalonic acidemia or another inborn error of metabolism are eligible to participate; mutational and enzymatic status is preferred but not required. Biochemical testing is required.
• Women with inborn errors of metabolism who have had a clinically documented prior pregnancy, currently are pregnant or planning a pregnancy.

You may not qualify if:

• Patients with phenylketonuria or hyperphenylalaninemia.
• Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.
• We will review a clinical description from the referring physician about a potential research subject to determine that the subject is appropriate to enter into the study. We reserve the right to exclude cases that are not definitively diagnosed by metabolites and/or molecular genetics or related to our direct research interests. We expect this to be a rare minority.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (2)

National Human Genome Research Institute (NHGRI)

Bethesda, Maryland, 20892, United States

Location

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (2)

• Kuseyri O, Weissbach A, Bruggemann N, Klein C, Gizewska M, Karall D, Scholl-Burgi S, Romanowska H, Krzywinska-Zdeb E, Monavari AA, Knerr I, Yapici Z, Leuzzi V, Opladen T. Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders. J Inherit Metab Dis. 2018 Sep;41(5):849-863. doi: 10.1007/s10545-018-0169-0. Epub 2018 Mar 28.

  PMID: 29594647 BACKGROUND

• Raval DB, Merideth M, Sloan JL, Braverman NE, Conway RL, Manoli I, Venditti CP. Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review. J Inherit Metab Dis. 2015 Sep;38(5):839-46. doi: 10.1007/s10545-014-9802-8. Epub 2015 Jan 8.

  PMID: 25567501 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Metabolism, Inborn Errors; Amino Acid Metabolism, Inborn Errors

Condition Hierarchy (Ancestors)

Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Charles P Venditti, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 19, 2014
• First Posted: December 23, 2014
• Study Start: December 19, 2014
• Primary Completion: August 20, 2018
• Study Completion: August 20, 2018
• Last Updated: May 1, 2026

Record last verified: 2025-09-09

Locations

US (2)