- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03412760
Hydrops: Diagnosing & Redefining Outcomes With Precision Study (HyDROPS)
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
Up to 1:1700 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 exome sequencing (ES) for the affected fetus or neonate in unexplained cases, as well as enrolling cases with a genetic explanation to represent the full spectrum of diseases underlying NIHF and other birth defects.
This study is open for enrollment by invitation. In addition to performing 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.
The specific research aims include:
- Create registry of clinical data for cases of NIHF and other birth defects.
- Investigate genetic variants underlying NIHF and other birth defects via ES.
Characterize the features and outcomes of genetic diseases presenting with 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, the research will facilitate future aims such as novel fetal therapies for genetic diseases.
Study Type
Enrollment (Estimated)
Phase
- Not Applicable
Contacts and Locations
Study Locations
-
-
California
-
San Francisco, California, United States, 94143
- University of California, San Francisco
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Description
Inclusion Criteria:
- Singletons or dichorionic twin pregnancies that are diagnosed prenatally with non-immune hydrops fetalis (NIHF) or another birth defect. Cases with chromosomal abnormalities, postnatal samples, and stillbirths will still be included.
Exclusion Criteria:
- Monochorionic twin pregnancies and cases of hydrops fetalis that are attributed to red cell alloimmunization (due to hydrops fetalis caused by different pathophysiologic processes).
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Diagnostic
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: Exome sequencing
There is only one arm of this study.
All enrolled participants with unexplained NIHF or other birth defect will be offered exome sequencing for the affected fetus or neonate.
Please refer to the Study Design section for further details.
|
Expansive genetic test performed for affected fetus or neonate.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Genetic variants detected with exome sequencing that implicate a genetic disease underlying 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 8-12 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.
|
Turn around time for exome sequencing results is 2-4 weeks for ongoing pregnancies and live infants, and is 8-12 weeks for stillbirths, terminations, and infant demises.
|
Collaborators and Investigators
Collaborators
Investigators
- Principal Investigator: Mary Norton, MD, University of California, San Francisco
- Principal Investigator: Teresa Sparks, MD, MAS, University of California, San Francisco
Publications and helpful links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Immune System Diseases
- Hematologic Diseases
- Genetic Diseases, Inborn
- Fetal Diseases
- Pregnancy Complications
- Hemoglobinopathies
- Erythroblastosis, Fetal
- alpha-Thalassemia
- Thalassemia
- Female Urogenital Diseases and Pregnancy Complications
- Urogenital Diseases
- Congenital Abnormalities
- Edema
- Hydrops Fetalis
Other Study ID Numbers
- HydropsUCSF
- 5K12HD001262 (U.S. NIH Grant/Contract)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
product manufactured in and exported from the U.S.
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Hydrops Fetalis
-
University of California, San FranciscoJohns Hopkins University; Eunice Kennedy Shriver National Institute of Child... and other collaboratorsEnrolling by invitation
-
Thomas Jefferson UniversityRecruitingGenetic Disorders | Nonimmune Fetal Hydrops | Nonimmune Hydrops in NeonateUnited States
-
Hospices Civils de LyonRecruiting
-
Chinese University of Hong KongRecruitingHaemoglobin Barts HydropsHong Kong
-
Shanghai First Maternity and Infant HospitalUnknown
-
Obstetrix Medical GroupTerminatedFetal Growth Retardation | Hydrops FetalisUnited States
-
Sanquin-LUMC J.J van Rood Center for Clinical Transfusion...Leiden University Medical CenterUnknownErythroblastosis, Fetal | Erythroblastosis Fetalis, Rh Disease | Erythroblastosis Fetalis Due to RH Antibodies | Erythroblastosis Fetalis Due to IsoimmunizationNetherlands
-
University of California, San FranciscoCalifornia Institute for Regenerative Medicine (CIRM)Enrolling by invitationHemoglobinopathies | Alpha Thalassemia Major | Thalassemia Major | Fetal Hydrops | Hemoglobinopathy; With Thalassemia | Fetal Anemia | Alpha; Thalassemia | Thalassemia Alpha | A-ThalassemiaUnited States
-
HaEmek Medical Center, IsraelCompletedHydrops in KeratoconusIsrael
-
The Hospital for Sick ChildrenLabatt Family Heart CentreRecruitingAtrial Flutter | Tachycardia, Supraventricular | Tachycardia, Atrioventricular Nodal Reentry | Tachycardia Atrial | Tachycardia, Reciprocating | Tachycardia, Paroxysmal | Fetal Hydrops | Tachycardia, Atrial EctopicUnited States, Hong Kong, Canada, Netherlands, Sweden, Australia, Brazil, Finland, France, Russian Federation, Spain, Czechia, Switzerland, United Kingdom
Clinical Trials on Exome sequencing
-
Fondazione Policlinico Universitario Agostino Gemelli...Recruiting
-
University of North Carolina, Chapel HillEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsCompletedMetabolism, Inborn Errors | Hearing Loss | Hereditary DiseaseUnited States
-
Helix, IncMedical University of South Carolina; HealthPartners Institute; WellSpan Health; St. Luke's Hospital and Health Network, Pennsylvania and other collaboratorsRecruiting
-
Hospices Civils de LyonUnknown
-
University Hospital, MontpellierEnrolling by invitation
-
University Hospital, MontpellierUnknown
-
Yinghao SunNot yet recruitingCastration-Resistant Prostatic Cancer
-
Sensor Technology for DeafblindCentral Clinical Hospital under President Affairs; Deaf-Blind Support Foundation... and other collaboratorsCompletedRetinitis Pigmentosa | Usher SyndromesRussian Federation
-
National Taiwan University HospitalMinistry of Science and Technology, TaiwanUnknownAcute Disease | Congenital Metabolic DisorderTaiwan
-
Children's Hospital of Fudan UniversityNot yet recruitingDiarrhea, Infantile | Enteropathy