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

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ClinicalTrials.gov Identifier: NCT03680651
Recruitment Status : Recruiting
First Posted : September 21, 2018
Last Update Posted : September 21, 2018
Sponsor:
Information provided by (Responsible Party):
University Hospital, Brest

Brief Summary:

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.


Condition or disease
Corpus Callosum Malformation Prenatal Disorder

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Study Type : Observational
Estimated Enrollment : 275 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation
Actual Study Start Date : June 18, 2018
Estimated Primary Completion Date : December 2018
Estimated Study Completion Date : December 2018

Resource links provided by the National Library of Medicine





Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. 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.



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Ages Eligible for Study:   18 Years to 55 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Fetuses with prenatal diagnosis of corpus callosum malformation and antenatal molecular analysis by array CGH performed
Criteria

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

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): NCT03680651


Contacts
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Contact: Anne-Hélène Saliou, MD 02 29 02 00 12 anne-helene.saliou@chu-brest.fr
Contact: Charlotte Caille-Benigni, Resident 06 50 22 85 93 charlotte.caillebenigni@chu-brest.fr

Locations
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France
CHRU de Brest Recruiting
Brest, France, 29200
Contact: Anne-Hélène Saliou, MD    02 29 02 00 12    anne-helene.saliou@chu-brest.fr   
Contact: Charlotte Caille-Benigni, Resident    06 50 22 85 93    charlotte.caillebenigni@chu-brest.fr   
Sponsors and Collaborators
University Hospital, Brest

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Responsible Party: University Hospital, Brest
ClinicalTrials.gov Identifier: NCT03680651     History of Changes
Other Study ID Numbers: AGMCC1318 (29BRC18.0123)
First Posted: September 21, 2018    Key Record Dates
Last Update Posted: September 21, 2018
Last Verified: June 2018

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Agenesis of Corpus Callosum
Congenital Abnormalities
Nervous System Malformations
Nervous System Diseases
Pathological Conditions, Anatomical