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

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

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.

Condition or disease Intervention/treatment
Fetal Agenesis of the Corpus Callosum (ACC) Genetic: whole exome sequencing (WES)

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.

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Study Type : Observational
Estimated Enrollment : 30 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum
Actual Study Start Date : August 28, 2018
Estimated Primary Completion Date : August 20, 2019
Estimated Study Completion Date : November 20, 2019

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Prenatal Testing

Intervention Details:
  • 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

Primary Outcome Measures :
  1. Technical success [ Time Frame: 5th week post diagnosis ]
    Rate of technical success

Secondary Outcome Measures :
  1. Genetic diagnosis [ Time Frame: 5th week post diagnosis ]
    Rate of genetic diagnoses

  2. Technical failure [ Time Frame: up to 4 months ]
    Rate of technical failures

  3. Delay to genetic diagnosis Result [ Time Frame: up to 4 months ]
    Delay between the ACC diagnosis and genetic sequencing known genes responsible for ACC

  4. Parents decision to continue pregnancy [ Time Frame: up to 4 months ]
    Number of continued pregnancies

  5. Parents decision to interrupt pregnancy [ Time Frame: up to 4 months ]
    Number of interrupted pregnancies

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

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

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 identifier (NCT number): NCT03600792

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Contact: Bacha Ahmed 01 42 16 16 77
Contact: Bissery Anne 01 42 16 24 32

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Groupe Hospitalier Pitié-Salpêtrière Recruiting
Paris, France, 75013
Contact: Delphine Heron, MD         
Principal Investigator: Delphine Heron, MD         
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
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Principal Investigator: Héron Delphine, MD APHP

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Responsible Party: Assistance Publique - Hôpitaux de Paris Identifier: NCT03600792    
Other Study ID Numbers: NI18011J
First Posted: July 26, 2018    Key Record Dates
Last Update Posted: January 14, 2019
Last Verified: June 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Assistance Publique - Hôpitaux de Paris:
Agenesis of the corpus callosum
whole exome sequencing
prenatal diagnosis
Additional relevant MeSH terms:
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Agenesis of Corpus Callosum
Congenital Abnormalities
Nervous System Malformations
Nervous System Diseases
Pathological Conditions, Anatomical