NCT03600792|Completed
Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum
EXACC
Loading search results
EXACC
Sponsor study identifier
observational
31
1 country
1
Study Start
August 28, 2018
Actual (reported)Primary Completion
October 19, 2019
Actual (reported)Study Completion
October 19, 2019
Actual (reported)Agenesis of the corpus callosum (ACC) is one of the most frequent cerebral malformations and is now diagnosed prenatally in most cases. Prenatal counseling is then challenging because of uncertain neurodevelopmental outcome, depending on the genetic cause of ACC. Our purpose is to evaluate the feasibility of sequencing known genes responsible for ACC by whole exome sequencing (WES) in trio (fetus and both parents) when ACC is diagnosed during the pregnancy, in order to provide complete and loyal information on the intellectual prognosis for the fetus.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
October 19, 2019
Actual (reported)Click on a node to explore related trials.
Some registry-reported names shown below are not yet linked in this graph.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
June 10, 2018
Actual (reported)July 26, 2018
Actual (reported)August 28, 2018
Actual (reported)October 19, 2019
Actual (reported)October 19, 2019
Actual (reported)Technical success
Rate of technical success
5th week post diagnosis
Genetic diagnosis
5th week post diagnosis
Technical failure
up to 4 months
Delay to genetic diagnosis Result
up to 4 months
Parents decision to continue pregnancy
up to 4 months
Parents decision to interrupt pregnancy
up to 4 months
WES analysis will be performed in the "UF de Génomique du Développement" (APHP, Pitié-Salpêtrière hospital), using DNA extracted from amniotic fluid for the foetus (also used for chromosomal studies) and DNA extracted from peripheral blood for both parents. There will be no supplemental invasive sampling for this study. The result of WES will be returned during a consultation with the geneticist and the associated prognosis will be explained in case of molecular diagnosis
Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.
30 trios (fetus and both parents) with confirmed diagnosis of fetal ACC during the 2nd or 3rd trimesters of pregnancy and who wish to perform molecular prenatal sequencing by WES.
Groupe Hospitalier Pitié-Salpêtrière
Paris, 75013, France
Héron Delphine, MD
APHP
31 participants (actual enrollment reported by the registry).
First Submitted
June 10, 2018
First Posted
July 26, 2018
Study Start
August 28, 2018
Actual (reported)Contact the study team to confirm eligibility.
Primary Completion
October 19, 2019
Actual (reported)Study Completion
October 19, 2019
Actual (reported)Last Updated
January 19, 2021
Record last verified: 2021-01
Download the complete ClinicalTrials.gov record imported by Syfrah, including fields not shown in this page. The registry may contain a newer revision.
Source: ClinicalTrials.gov.
JSON downloads include source attribution and retrieval details alongside the unchanged original record or the separately normalized values.
Source retrieved: