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

Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Observational

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

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 h
  

  Detailed Summary:

  Women with inherited metabolic disorders are reaching child bearing age more often due to advances in early diagnosis and improved pediatric care. For many of these disorders, there is very little information in the literature to guide the counseling and treatment of these patients and their pregnancies.

  The most information for the effects of an underlying inborn error of metabolism in pregnancy derives from the study of phenylketonuria (PKU). From the knowledge gained through the collection of information from multiple cases of pregnancy affected by PKU, important management issues were identified. For example, children born to mothers with an unrestricted diet were substantially more likely to have intellectual disability, microcephaly, and low birth weights than women who maintained a phenylalanine restricted diet. The excess phenylalanine poses long-term health risks to the developing fetus and now a vigilant metabolic approach is recognized as mandatory in women with PKU desiring pregnancy.

  Compared to PKU, most or all other intermediary metabolic disorders have been understudied. For example, there are nine published cases of methylmalonic academia (MMA) in pregnancy and one case of cobalamin C deficiency in pregnancy, and review articles have reported the same cases. For other inborn errors of metabolism there is even less published or known. The paucity of publication of pregnancy in IEMs other than PKU may be due to the lack of organized research to address pregnancy management in metabolic disorders.

  The objective of this study is to establish a pregnancy registry of women with inborn errors of metabolism other than PKU. We will collect management plans, baseline laboratory values, prenatal and postpartum course including metabolic and obstetrical issues, and fet
  Sponsor: National Human Genome Research Institute (NHGRI)
  

  Current Primary Outcome: Maternal inborn errors of metabolism [ Time Frame: Yearly ]
  
  

  Original Primary Outcome: Same as current
  
  

  Current Secondary Outcome:
  
  

  Original Secondary Outcome:
  
  Information By: National Institutes of Health Clinical Center (CC)
  

  Dates:
  Date Received: December 19, 2014
  Date Started: December 10, 2014
  Date Completion: October 1, 2024
  Last Updated: April 21, 2017
  Last Verified: September 26, 2016