Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation (AGMCC1318)

September 20, 2018 updated by: University Hospital, Brest

Corpus callosum malformation (CCM) is the most frequently detected cerebral defect diagnosed in the prenatal setting. The most common CCM is corpus callosum agenesis (CCA) which is found in 2 to 3% of patients presenting with intellectual disability.

When CCM is diagnosed, the risk of chromosomal disorder is estimated to be 16%, be it aneuploidy such as trisomy 18, trisomy 13 or mosaic trisomy 8, or a chromosome structure anomaly, copy number variation or more complex rearrangement In France, since 2013 oligoarray-based comparative genomic hybridization (aCGH) analysis is performed in the prenatal period for most malformations after approval by a multidisciplinary prenatal diagnosis ethics committee (Centre Pluridisciplinaire de Diagnostic Prénatal, CPDPN) . However, to date only a few studies have been published which report recurrent Copy Number Variations (CNV) associated with CCM and estimate the risk for a chromosomal disorder, thus making counseling difficult in this context of prenatal diagnosis.

Study Overview

Status

Unknown

Conditions

Study Type

Observational

Enrollment (Anticipated)

275

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

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 to 55 years (ADULT)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Fetuses with prenatal diagnosis of corpus callosum malformation and antenatal molecular analysis by array CGH performed

Description

Inclusion Criteria:

  • Prenatal diagnosis of corpus callosum malformation, isolated or not, between 01/01/2013, and 31/05/2018
  • Fetal DNA available
  • Mother's informed consent obtained

Exclusion Criteria:

  • No amniocentesis performed
  • Refusing to participate

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
Measure Description
Time Frame
frequency of chromosomal abnormalities
Time Frame: 6 months
The main objective is to describe the frequency of chromosomal abnormalities associated with a prenatal diagnosis of corpus callosum agenesis in the hope of improving genetic counseling.
6 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Type of chromosomal abnormalities
Time Frame: 6 months
Describe the type of chromosomal abnormalities associated with a prenatal diagnosis of corpus callosum agenesis and thus identify recurrent copy number variations.
6 months

Collaborators and Investigators

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

Sponsor

University Hospital, Brest

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)

June 18, 2018

Primary Completion (ANTICIPATED)

December 1, 2018

Study Completion (ANTICIPATED)

December 1, 2018

Study Registration Dates

First Submitted

August 30, 2018

First Submitted That Met QC Criteria

September 20, 2018

First Posted (ACTUAL)

September 21, 2018

Study Record Updates

Last Update Posted (ACTUAL)

September 21, 2018

Last Update Submitted That Met QC Criteria

September 20, 2018

Last Verified

June 1, 2018

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • AGMCC1318 (29BRC18.0123)

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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