Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 5 of 13 for:    "Corpus callosum agenesis"

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

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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
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

Tracking Information
First Submitted Date August 30, 2018
First Posted Date September 21, 2018
Last Update Posted Date September 21, 2018
Actual Study Start Date June 18, 2018
Estimated Primary Completion Date December 2018   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: September 20, 2018)
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.
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures
 (submitted: September 20, 2018)
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.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation
Official Title Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation
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.

Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Retrospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Fetuses with prenatal diagnosis of corpus callosum malformation and antenatal molecular analysis by array CGH performed
Condition
  • Corpus Callosum Malformation
  • Prenatal Disorder
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: September 20, 2018)
275
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2018
Estimated Primary Completion Date December 2018   (Final data collection date for primary outcome measure)
Eligibility 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
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years to 55 Years   (Adult)
Accepts Healthy Volunteers No
Contacts
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
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT03680651
Other Study ID Numbers AGMCC1318 (29BRC18.0123)
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party University Hospital, Brest
Study Sponsor University Hospital, Brest
Collaborators Not Provided
Investigators Not Provided
PRS Account University Hospital, Brest
Verification Date June 2018