Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes (DASIRUWIBE)
Primary Purpose
Pregnant Women Requiring Amniocentesis
Status
Unknown status
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Methylation Index
Sponsored by
About this trial
This is an interventional diagnostic trial for Pregnant Women Requiring Amniocentesis focused on measuring MI, amniocentesis, cord blood, placenta, Silver Russell Syndrome, Beckwith Wiedemann Syndrome
Eligibility Criteria
Inclusion Criteria:
- Pregnant women, 18 years of age or older
- Requiring amniotic fluid sampling in the context of pregnancy care after 15 weeks of amenorrhea
- Having provided written informed consent
- Followed at Trousseau Hospital or Clinique des Bluets during their pregnancy
- Covered by or beneficiary of a state health insurance program (except for medical aid programs)
Exclusion Criteria:
- Warning signs on ultrasound that require a medical termination of pregnancy to be discussed even before amniocentesis is performed
Sites / Locations
- Explorations fonctionnelles endocriniennes
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
Pregnant women requiring amniocentesis
Arm Description
Pregnant women requiring amniocentesis
Outcomes
Primary Outcome Measures
Methylation Index (MI) of the 11p15 region using DNA extracted
To evaluate the agreement between the MI of the 11p15 region obtained using DNA extracted from amniocytes and that extracted from cord blood leukocytes, by calculating the intraclass correlation coefficient (ICC).
Secondary Outcome Measures
MI using the placenta
To calculate the MI using the placentas of the same individuals and to evaluate its agreement with the MIs obtained above.
Full Information
NCT ID
NCT01842659
First Posted
April 24, 2013
Last Updated
August 23, 2016
Sponsor
Assistance Publique - Hôpitaux de Paris
1. Study Identification
Unique Protocol Identification Number
NCT01842659
Brief Title
Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
Acronym
DASIRUWIBE
Official Title
Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
Study Type
Interventional
2. Study Status
Record Verification Date
August 2016
Overall Recruitment Status
Unknown status
Study Start Date
May 2013 (undefined)
Primary Completion Date
December 2015 (Actual)
Study Completion Date
October 2016 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Assistance Publique - Hôpitaux de Paris
4. Oversight
Data Monitoring Committee
No
5. Study Description
Brief Summary
Losses of imprinting are involved in various syndromes. Those occurring in the 11p15 region lead to Beckwith-Wiedemann and Silver-Russell Syndromes. These losses of imprinting follow a mosaic pattern, rendering their detection difficult, especially given the scarcity of available DNA in amniotic fluid. Thus, in spite of growing demand, prenatal diagnosis (PND) for imprinting abnormalities of the 11p15 region is not available.
The recent development of a quantitative PCR method that permits the methylation index (MI) of imprinted regions to be calculated renders PND technically possible. Nevertheless, because of the mosaic nature of these anomalies, it is essential to verify that the methylation pattern of the 11p15 region obtained from the amniotic fluid matches that obtained from the blood.
Detailed Description
To evaluate the agreement between the methylation index of the 11p15 region obtained using DNA extracted from amniocytes and that extracted from cord blood leukocytes, by calculating the intraclass correlation coefficient (ICC).
Ancillary study :
This second part of the study aims to determine the standard of methylation index of the 11p15 region (inclusion of 100 additional patients). The use of amniotic liquid will allow to calculate :
the average of methylation index,
the value of the standard deviation
the inter-assay coefficient of variation for the test-used.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Pregnant Women Requiring Amniocentesis
Keywords
MI, amniocentesis, cord blood, placenta, Silver Russell Syndrome, Beckwith Wiedemann Syndrome
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
67 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Pregnant women requiring amniocentesis
Arm Type
Experimental
Arm Description
Pregnant women requiring amniocentesis
Intervention Type
Genetic
Intervention Name(s)
Methylation Index
Intervention Description
To calculate the methylation index (MI) of imprinted regions.
Primary Outcome Measure Information:
Title
Methylation Index (MI) of the 11p15 region using DNA extracted
Description
To evaluate the agreement between the MI of the 11p15 region obtained using DNA extracted from amniocytes and that extracted from cord blood leukocytes, by calculating the intraclass correlation coefficient (ICC).
Time Frame
27 weeks
Secondary Outcome Measure Information:
Title
MI using the placenta
Description
To calculate the MI using the placentas of the same individuals and to evaluate its agreement with the MIs obtained above.
Time Frame
27 weeks
10. Eligibility
Sex
Female
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Inclusion Criteria:
Pregnant women, 18 years of age or older
Requiring amniotic fluid sampling in the context of pregnancy care after 15 weeks of amenorrhea
Having provided written informed consent
Followed at Trousseau Hospital or Clinique des Bluets during their pregnancy
Covered by or beneficiary of a state health insurance program (except for medical aid programs)
Exclusion Criteria:
Warning signs on ultrasound that require a medical termination of pregnancy to be discussed even before amniocentesis is performed
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Irene Netchine, PU-PH
Organizational Affiliation
Assistance Publique
Official's Role
Principal Investigator
Facility Information:
Facility Name
Explorations fonctionnelles endocriniennes
City
Paris
ZIP/Postal Code
75012
Country
France
12. IPD Sharing Statement
Learn more about this trial
Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
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