Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol (NCT02322177) | Clinical Trial Compass
CompletedNot Applicable
Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol
United States2 participantsStarted 2014-12-19
Plain-language 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.
Who can participate
Age range
14 Years – 50 Years
Sex
FEMALE
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
* INCLUSION CRITERIA:
* 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.
EXCLUSION CRITERIA:
* 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.
* Medical condition(s) or mental retardation are not in themselves reason for exclusion if in the judgment of the referring physician this would involve no more than minimal risk. We will make every effort to explain the study for the purpose of assent in a manner that the family feels is both age and developmentally appropriate for that child.
* 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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Maternal inborn errors of metabolism
Timeframe: Yearly
Trial details
NCT IDNCT02322177
SponsorNational Human Genome Research Institute (NHGRI)