We are updating the design of this site. Learn more.
Show more
ClinicalTrials.gov
ClinicalTrials.gov Menu

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

This study is ongoing, but not recruiting participants.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01842659
First Posted: April 29, 2013
Last Update Posted: August 24, 2016
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. Read our disclaimer for details.
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
  Purpose

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.


Condition Intervention
Pregnant Women Requiring Amniocentesis Genetic: Methylation Index

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes

Resource links provided by NLM:


Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • 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).


Secondary Outcome Measures:
  • 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.


Enrollment: 67
Study Start Date: May 2013
Estimated Study Completion Date: October 2016
Primary Completion Date: December 2015 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Pregnant women requiring amniocentesis
Pregnant women requiring amniocentesis
Genetic: Methylation Index
To calculate the methylation index (MI) of imprinted regions.

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.
  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
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
  Contacts and Locations
Information from the National Library of Medicine

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): NCT01842659


Locations
France
Explorations fonctionnelles endocriniennes
Paris, France, 75012
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Irene Netchine, PU-PH Assistance Publique
  More Information

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT01842659     History of Changes
Other Study ID Numbers: CRC 2011
AOM 11003 ( Other Identifier: Assistance Publique )
First Submitted: April 24, 2013
First Posted: April 29, 2013
Last Update Posted: August 24, 2016
Last Verified: August 2016

Keywords provided by Assistance Publique - Hôpitaux de Paris:
MI
amniocentesis
cord blood
placenta
Silver Russell Syndrome
Beckwith Wiedemann Syndrome

Additional relevant MeSH terms:
Syndrome
Beckwith-Wiedemann Syndrome
Silver-Russell Syndrome
Disease
Pathologic Processes
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Dwarfism