Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes (DASIRUWIBE)

August 23, 2016 updated by: Assistance Publique - Hôpitaux de Paris

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.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

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.

Study Type

Interventional

Enrollment (Actual)

67

Phase

  • Not Applicable

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

  • France
      • Paris, France, 75012
        • Explorations fonctionnelles endocriniennes

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

Genders Eligible for Study

Female

Description

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

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

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Pregnant women requiring amniocentesis
Genetic: Methylation Index
To calculate the methylation index (MI) of imprinted regions.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Methylation Index (MI) of the 11p15 region using DNA extracted
Time Frame: 27 weeks
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).
27 weeks

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
MI using the placenta
Time Frame: 27 weeks
To calculate the MI using the placentas of the same individuals and to evaluate its agreement with the MIs obtained above.
27 weeks

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Assistance Publique - Hôpitaux de Paris

Investigators

  • Principal Investigator: Irene Netchine, PU-PH, Assistance Publique

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

May 1, 2013

Primary Completion (Actual)

December 1, 2015

Study Completion (Anticipated)

October 1, 2016

Study Registration Dates

First Submitted

April 24, 2013

First Submitted That Met QC Criteria

April 25, 2013

First Posted (Estimate)

April 29, 2013

Study Record Updates

Last Update Posted (Estimate)

August 24, 2016

Last Update Submitted That Met QC Criteria

August 23, 2016

Last Verified

August 1, 2016

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CRC 2011
  • AOM 11003 (Other Identifier: Assistance Publique)

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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