- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05290701
Evaluating Prenatal Exome Sequencing Study (EPES)
October 2, 2023 updated by: gwesanten, Leiden University Medical Center
This study evaluates the impact of the various outcomes of pES (definitive diagnosis, probable diagnosis and IF) on clinical decision making and on parental psychological wellbeing, compared between different analysis strategies to investigate the clinical utility, defined as the balance between potential harms and benefits.
Study Overview
Status
Enrolling by invitation
Detailed Description
Foetal anomalies as detected on prenatal ultrasound are present in 2-3% of pregnancies.
The diagnosis of a genetic syndrome as the underlying cause often has significant consequences for the prognosis and therefore also a significant impact on parental reproductive decision making.
In addition to chromosomal testing, prenatal exome sequencing (pES) is increasingly being offered.
Although prenatal diagnostic rates are promising, no studies report on the actual implementation of pES in routine care and thus several important knowledge gaps remain regarding clinical utility (the balance between potential harms and benefits) and the preferred analysis strategy (broad versus targeted analysis).
A broad analysis has a possible higher diagnostic yield, but it is unknown whether the increased chance of finding an uncertain diagnosis and Incidental Findings outweighs this benefit when it comes to clinical decision making and parental psychological wellbeing.
The central aim of this study is to address the knowledge gaps raised above, and increase clinical utility by using the obtained data to improve analysis strategies and to potentially identify new genes.
Study Type
Observational
Enrollment (Estimated)
1000
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
-
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Zuid-Holland
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Leiden, Zuid-Holland, Netherlands, 2333ZA
- Leiden University Medical Centre
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
18 years and older (Adult, Older Adult)
Accepts Healthy Volunteers
No
Sampling Method
Probability Sample
Study Population
Pregnant women with one or more ultrasound findings during the current pregnancy who consent to pES, and their partner.
Description
Inclusion Criteria:
- At least one fetal anomaly detected in the current pregnancy, irrespective of gestational age;
- Pregnancy ongoing;
- Mother at least 18 years old and providing consent for pES;
- If father is available: father at least 18 years old and providing consent for pES.
Exclusion Criteria:
There are no exclusion criteria.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Percentage of definitive diagnoses, probable diagnoses and incidental findings (IF)
Time Frame: 2 years
|
2 years
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Patients perspectives on probable diagnoses and incidental findings including psychological wellbeing as measured by questionnaires.
Time Frame: 2 years
|
We will use validated scales such as the State Trait Anxiety Inventory-6, the Decisional Conflict Scale, the Decisional Regret Scale, the Intolerance of Uncertainty Scale, the Impact of Event Scale and the Pre- and Postnatal Bonding Scale.
|
2 years
|
Clinical impact of prenatal exome sequencing (pES)
Time Frame: 2 years
|
Clinical impact will be defined as medical or surgical in utero intervention, pregnancy termination, location and mode of delivery, decisions on comfort care and neonatal policy influenced by the results of pES.
|
2 years
|
Impact of different analysis strategies on the distribution of the various outcomes of pES (definitive diagnosis, probable diagnosis and incidental findings)
Time Frame: 2 years
|
pES data of all included pregnancies will be retrieved and re-analyzed to minimize differences in variant interpretation and to determine the impact of different analysis strategies on the percentages of various outcomes of pES (definitive diagnoses, probable diagnoses and incidental findings).
Different analysis strategies will be employed: analysis of an HPO-based gene panel, analysis of an established gene panel of genes causing multiple congenital anomalies and/or intellectual disability, and analysis of all genes.
|
2 years
|
Other Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Number of identified new disease genes
Time Frame: 2 years
|
2 years
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
February 21, 2022
Primary Completion (Estimated)
October 1, 2024
Study Completion (Estimated)
April 1, 2025
Study Registration Dates
First Submitted
March 11, 2022
First Submitted That Met QC Criteria
March 21, 2022
First Posted (Actual)
March 22, 2022
Study Record Updates
Last Update Posted (Actual)
October 3, 2023
Last Update Submitted That Met QC Criteria
October 2, 2023
Last Verified
October 1, 2023
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- NL77927.058.21
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
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.
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