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Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum (EXACC)

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ClinicalTrials.gov Identifier: NCT03600792
Recruitment Status : Recruiting
First Posted : July 26, 2018
Last Update Posted : January 14, 2019
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Tracking Information
First Submitted Date June 10, 2018
First Posted Date July 26, 2018
Last Update Posted Date January 14, 2019
Actual Study Start Date August 28, 2018
Estimated Primary Completion Date August 20, 2019   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 16, 2018)
Technical success [ Time Frame: 5th week post diagnosis ]
Rate of technical success
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT03600792 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: July 16, 2018)
  • Genetic diagnosis [ Time Frame: 5th week post diagnosis ]
    Rate of genetic diagnoses
  • Technical failure [ Time Frame: up to 4 months ]
    Rate of technical failures
  • Delay to genetic diagnosis Result [ Time Frame: up to 4 months ]
    Delay between the ACC diagnosis and genetic sequencing known genes responsible for ACC
  • Parents decision to continue pregnancy [ Time Frame: up to 4 months ]
    Number of continued pregnancies
  • Parents decision to interrupt pregnancy [ Time Frame: up to 4 months ]
    Number of interrupted pregnancies
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 Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum
Official Title Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum
Brief Summary 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.
Detailed Description

Agenesis of the corpus callosum (ACC) is one of the most frequent cerebral malformations. The neurodevelopmental outcome of patients with ACC is extremely variable, ranging from normal intelligence to severe intellectual disability (ID). When ACC is discovered during the prenatal period, prenatal counseling is challenging because of this uncertain neurodevelopmental outcome. Currently, only chromosomal analyses are performed in cases of prenatal diagnoses, which are expected to bring the diagnosis in only few cases. No molecular studies of genes implied in ACC with or without ID are performed. Then, the couples are in the difficult situation of continuing or interrupting the pregnancy without complete information about the aetiology of ACC.

All patients will have a consultation with an obstetrician and consultations with a paediatric neurologist and a geneticist. The geneticist will explain WES and its issues. Both parents will have to provide informed consent for the study.

Study Type Observational
Study Design Observational Model: Family-Based
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population 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.
Condition Fetal Agenesis of the Corpus Callosum (ACC)
Intervention Genetic: whole exome sequencing (WES)
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
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: July 16, 2018)
30
Original Estimated Enrollment Same as current
Estimated Study Completion Date November 20, 2019
Estimated Primary Completion Date August 20, 2019   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Age ≥ 18 years old
  • ACC diagnosed prenatally during the 2nd trimester of pregnancy, confirmed by ultrasound by a referee
  • Fetal sample (amniotic fluid, 10 ml) et blood samples of both parents (2 tubes of 5 ml EDTA)
  • Covered by social security
  • Written consent obtain for routine and research genetic analysis

Exclusion Criteria:

  • Refusal to participate from one or both parents
  • Pregnancies obtained with gamete donation (trio sequencing not feasible)
  • If one parent is not available (trio sequencing not feasible)
  • Inability to understand the given information
  • One or both parents under juridical protection
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Bacha Ahmed 01 42 16 16 77 ahmed.bacha@aphp.fr
Contact: Bissery Anne 01 42 16 24 32 anne.bissery@aphp.fr
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT03600792
Other Study ID Numbers NI18011J
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
Plan to Share IPD: Undecided
Responsible Party Assistance Publique - Hôpitaux de Paris
Study Sponsor Assistance Publique - Hôpitaux de Paris
Collaborators Not Provided
Investigators
Principal Investigator: Héron Delphine, MD APHP
PRS Account Assistance Publique - Hôpitaux de Paris
Verification Date June 2018