Implications of Maternal 45,X Mosaicism as a Secondary Genomic Finding Following Cell-Free DNA Sequencing During Pregnancy: A Deep Phenotype Study
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ClinicalTrials.gov Identifier: NCT05548881 |
Recruitment Status :
Not yet recruiting
First Posted : September 22, 2022
Last Update Posted : May 16, 2024
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Tracking Information | |||||||||
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First Submitted Date | September 17, 2022 | ||||||||
First Posted Date | September 22, 2022 | ||||||||
Last Update Posted Date | May 16, 2024 | ||||||||
Estimated Study Start Date | May 21, 2024 | ||||||||
Estimated Primary Completion Date | December 31, 2042 (Final data collection date for primary outcome measure) | ||||||||
Current Primary Outcome Measures |
Hypertension [ Time Frame: 5 Years ] Evaluation of hypertension as defined in 2017 by the American College of Cardiology/American Heart Association (ACC/AHA): Normal blood pressure - Systolic <120 mmHg and diastolic <80 mmHg
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Original Primary Outcome Measures |
Hypertension [ Time Frame: 5 Years ] Evaluation of hypertension as defined in 2017 by the American College of Cardiology/American Heart Association (ACC/AHA): Normal blood pressure Systolic <120 mmHg and diastolic <80 mmHg
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Change History | |||||||||
Current Secondary Outcome Measures | Not Provided | ||||||||
Original Secondary Outcome Measures | Not Provided | ||||||||
Current Other Pre-specified Outcome Measures | Not Provided | ||||||||
Original Other Pre-specified Outcome Measures | Not Provided | ||||||||
Descriptive Information | |||||||||
Brief Title | Implications of Maternal 45,X Mosaicism as a Secondary Genomic Finding Following Cell-Free DNA Sequencing During Pregnancy: A Deep Phenotype Study | ||||||||
Official Title | Implications of Maternal 45,X Mosaicism As A Secondary Genomic Finding Following Cell-free DNA Sequencing During Pregnancy: A Deep Phenotype Study | ||||||||
Brief Summary | Background: Mosaicism is a condition in which cells within the same person have a different genetic makeup. Sometimes, a type of mosaicism called 45,X may not be discovered in a woman until she undergoes routine tests during pregnancy. Little is known about how 45,X mosaicism may affect a person s long-term health. Objective: This natural history study will look for health risks in people with 45,X mosaicism. Eligibility: People aged 18 to 99 years who during pregnancy were found to have 45,X mosaicism. Healthy volunteers are also needed. Design: Participants will stay in the clinic for 2 days. They will have many tests: A physical exam, including measurements of the body. A gynecological exam, including genital measurements. Photos may be taken, with consent. Blood tests, with blood drawn over an 8-week period. An oral glucose test for diabetes may also be done. Tests of heart function. Participants will have small stickers attached to wires place on their chest, arms, and legs. Hearing tests. Ultrasound exams, which use echoing sound waves to create images of organs such as the heart and kidneys. Imaging scans including x-rays, MRI, and DXA. The DXA uses x-rays to measure bone density and body fat. Other types of scans will capture images of the liver. Participants will complete 4 surveys with questions about their sexual function, anxiety, depression, and health. Participants may remain in the study for 20 years. For 5 years, they will have a yearly follow-up by phone or email. They may have follow-up visits at the clinic every 5 years. |
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Detailed Description | Study Description: This is a deep phenotype study of women who are determined to have 45,X mosaicism as a secondary genomic finding following cfDNA sequencing during pregnancy. Objectives:
Endpoints: Primary Endpoint: (i) Hypertension (as defined in 2017 by the American College of Cardiology/American Heart Association (ACC/AHA) Secondary Endpoints:
Exploratory endpoints: Changes in phenotype (as outlined above) for both 45,X mosaicism and control groups with somatic loss of X chromosome over time. |
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Study Type | Observational | ||||||||
Study Design | Observational Model: Cohort Time Perspective: Prospective |
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Target Follow-Up Duration | Not Provided | ||||||||
Biospecimen | Not Provided | ||||||||
Sampling Method | Non-Probability Sample | ||||||||
Study Population | Women who have submitted clinical samples for prenatal aneuploidy screening test with the finding of X mosaicism will be recruited from laboratories that offer cell-free DNA testing during pregnancy as well as nation-wide obstetricians and maternal-fetal-medicine specialists Potential participants are likely to be referred from specialists who care for them or will find the protocol through an internet search A control group of volunteers of appropriate age, ethnicity, BMI, SES and parity will be recruited using resources of the NIH Office of Patient Recruitment (OPR) and AlescoData and will be a matched to study participants. | ||||||||
Condition |
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Intervention | Not Provided | ||||||||
Study Groups/Cohorts |
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Publications * | Not Provided | ||||||||
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | |||||||||
Recruitment Status | Not yet recruiting | ||||||||
Estimated Enrollment |
240 | ||||||||
Original Estimated Enrollment | Same as current | ||||||||
Estimated Study Completion Date | December 31, 2042 | ||||||||
Estimated Primary Completion Date | December 31, 2042 (Final data collection date for primary outcome measure) | ||||||||
Eligibility Criteria |
Individuals of all races/ethnicities are eligible to participate.
Inclusion criteria for control subjects:
EXCLUSION CRITERIA: An individual who meets any of the following criteria at screening or baseline will be excluded from participation in this study:
Exclusion criteria for control subjects:
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Sex/Gender |
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Ages | 18 Years to 99 Years (Adult, Older Adult) | ||||||||
Accepts Healthy Volunteers | Yes | ||||||||
Contacts |
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Listed Location Countries | United States | ||||||||
Removed Location Countries | |||||||||
Administrative Information | |||||||||
NCT Number | NCT05548881 | ||||||||
Other Study ID Numbers | 10000137 000137-CH |
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Has Data Monitoring Committee | Not Provided | ||||||||
U.S. FDA-regulated Product |
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IPD Sharing Statement |
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Current Responsible Party | National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ) | ||||||||
Original Responsible Party | Same as current | ||||||||
Current Study Sponsor | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | ||||||||
Original Study Sponsor | Same as current | ||||||||
Collaborators | Not Provided | ||||||||
Investigators |
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PRS Account | National Institutes of Health Clinical Center (CC) | ||||||||
Verification Date | December 21, 2023 |