Hydrops: Diagnosing & Redefining Outcomes With Precision Study (HyDROPS)
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|ClinicalTrials.gov Identifier: NCT03412760|
Recruitment Status : Recruiting
First Posted : January 26, 2018
Last Update Posted : April 10, 2020
|Condition or disease||Intervention/treatment||Phase|
|Hydrops Fetalis Birth Defect Fetal Anomaly||Diagnostic Test: Trio exome sequencing||Not Applicable|
Between 1:1700 and 1:3000 pregnancies are affected by non-immune hydrops fetalis (NIHF), and this condition is associated with significant perinatal risks, ranging from preterm birth to Ballantyne (maternal mirror) syndrome, stillbirth, and neonatal death. Birth defects affect 1:33 pregnancies, and are the leading cause of infant death (contributing to approximately 20% of infant deaths). The investigators are performing trio exome sequencing (ES) for the fetus or neonate (meaning that samples are collected from the fetus or neonate as well each each biological parent for reference) to investigate the underlying genetic etiology.
This study is open for enrollment. Established collaborating sites include all five sites of the University of California Fetal-Maternal Consortium (UCfC). The UCfC is a collaborative network of investigators with representatives from five UC medical centers (UC Davis, UC Irvine, UC Los Angeles, UC San Diego, UC San Francisco). In addition to recruiting through these five centers, the investigators are also recruiting from ANY SITE NATIONALLY in order to develop a diverse cohort of NIHF cases and other birth defects.
In addition to performing exome sequencing (ES), the investigators are collecting clinical data prospectively on all cases of NIHF and other birth defects, including demographics, medical and obstetric history, prenatal and delivery course, and postnatal outcomes until the infant is discharged from the hospital.
The specific research aims include:
- Create registry of clinical data for cases of non-immune hydrops fetalis (NIHF) and other birth defects.
- Investigate the genetic variants underlying NIHF and other birth defects via ES.
Develop a precision-based approach to antenatal and neonatal care in cases of NIHF and other birth defects.
- In particular, the researchers are focused on enrolling cases of increased nuchal translucency, cystic hygroma, abnormal fetal fluid collection (even single fluid compartments such as isolated pleural effusion), and/or frank NIHF.
This research will contribute novel information about the frequency and types of genetic disorders in fetuses and newborns with a diagnosis of NIHF and other birth defects, enabling providers to more accurately counsel about prognosis and individualize perinatal care. This information will also facilitate informed decision-making for parents, allow the care team to anticipate specific perinatal needs, and enable more precise counseling for the parents about recurrence risks for NIHF and other birth defects. Further, examining genotype-phenotype correlations will facilitate a precision-based approach to individualize counseling and also enable targeted neonatal (and in the future, antenatal) therapies such as enzyme replacement and stem cell transplantation.
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||500 participants|
|Intervention Model:||Single Group Assignment|
|Intervention Model Description:||All cases of non-immune hydrops fetalis (NIHF) or other birth defects enrolled in the study will be offered trio exome sequencing (ES). This will be trio ES ideally, meaning that ES will be offered for the affected fetus as well as for both of the biologic parents. If one or both of the parents are unavailable, then duo or proband-only ES could be done, respectively.|
|Masking:||None (Open Label)|
|Official Title:||Hydrops: Diagnosing & Redefining Outcomes With Precision Study|
|Actual Study Start Date :||October 11, 2018|
|Estimated Primary Completion Date :||November 2025|
|Estimated Study Completion Date :||December 2025|
Experimental: Trio exome sequencing
There is only one arm of this study. All enrolled participants will be offered trio exome sequencing (or duo where necessary). Please refer to the Study Design section for further details.
Diagnostic Test: Trio exome sequencing
Expansive genetic test performed for affected fetus as well as for both biological parents where possible (or for only one parent where applicable).
- Genetic variants detected on exome sequencing that implicate a cause of non-immune hydrops fetalis (NIHF) and other birth defects. [ Time Frame: Turn around time for exome sequencing results is 2-4 weeks for ongoing pregnancies and live infants, and is 8-10 weeks for stillbirths, terminations, and infant demises. ]Both NIHF and birth defects can be caused by a variety of genetic variants that researchers are continuing to learn more about. Exome sequencing will yield information about the specific genetic variants present in cases of NIHF and other birth defects, and about the specific diseases implicated by these variants. Investigators will determine the proportion of cases seen in the setting of particular genetic variants, and will correlate phenotypic outcomes with specific genotypes.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03412760
|Contact: Teresa Sparks, MDfirstname.lastname@example.org|
|Contact: Dougherty Val, MSemail@example.com|
|United States, California|
|University of California, San Francisco||Recruiting|
|San Francisco, California, United States, 94143|
|Contact: Teresa Sparks, MD 415-514-9399 firstname.lastname@example.org|
|Contact: Dougherty Val, MS 415-514-0730 email@example.com|
|Principal Investigator: Teresa Sparks, MD|
|Principal Investigator: Mary Norton, MD|
|Sub-Investigator: Billie Lianoglou, LCGC|
|Sub-Investigator: Tippi Mackenzie, MD|
|Sub-Investigator: Stephan Sanders, MD, PhD|
|Sub-Investigator: Ophir Klein, MD, PhD|
|Sub-Investigator: Renata Gallagher, MD, PhD|
|Principal Investigator:||Teresa Sparks, MD||University of California, San Francisco|
|Principal Investigator:||Mary Norton, MD||University of California, San Francisco|