Hydrops: Diagnosing & Redefining Outcomes With Precision Study (HyDROPS)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT03412760|
Recruitment Status : Recruiting
First Posted : January 26, 2018
Last Update Posted : May 8, 2019
|Condition or disease||Intervention/treatment||Phase|
|Hydrops Fetalis Birth Defect Fetal Anomaly||Diagnostic Test: Trio whole 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 whole exome sequencing (WES) for the fetus or neonate, as well as both biological parents, in each of these cases 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 nationally in order to develop a diverse cohort of NIHF cases and other birth defects.
In addition to performing trio whole exome sequencing (WES), 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 a multi-center registry to collect 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 whole exome sequencing (WES).
- Develop a precision-based approach to antenatal and neonatal care in cases of NIHF and other birth defects.
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 again 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 whole exome sequencing (WES). This will be trio WES ideally, meaning that WES 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 WES 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 whole exome sequencing
There is only one arm of this study. All enrolled participants will be offered trio whole exome sequencing (or duo where necessary). Please refer to the Study Design section for further details.
Diagnostic Test: Trio whole 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 whole exome sequencing that implicate a cause of non-immune hydrops fetalis (NIHF) and other birth defects. [ Time Frame: Turn around time for whole exome sequencing results is 2-4 weeks. ]Both NIHF and birth defects can be caused by a variety of genetic variants that researchers are continuing to learn more about. Whole 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|
|Sub-Investigator: Roberta Keller, MD|
|Sub-Investigator: Luke Judge, MD|
|Sub-Investigator: Anne Mardy, MD|
|Principal Investigator:||Teresa Sparks, MD||University of California, San Francisco|
|Principal Investigator:||Mary Norton, MD||University of California, San Francisco|