Fetal Agenesis of the Corpus Callosum (ACC)EXACCNCT03600792
Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum
An observational study of Fetal Agenesis of the Corpus Callosum (ACC), run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Fetal Agenesis of the Corpus Callosum (ACC)
- What is being tested?
- whole exome sequencing (WES)
- How many people
- 31 participants
- Where
- 1 siteFrance
- Study dates
- 28 Aug 2018to 19 Oct 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Being tested
- whole exome sequencing (WES)
- Keywords
- Agenesis of the corpus callosum, whole exome sequencing, prenatal diagnosis
- Medical subject headings
- Agenesis of Corpus Callosum
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
whole exome sequencing (WES)Genetic
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
What is being measured
The primary outcome is the main question the study is designed to answer.
Technical success
Rate of technical success
Measured: 5th week post diagnosis
Secondary outcomes (5)
Genetic diagnosis
Rate of genetic diagnoses
Measured: 5th week post diagnosis
Technical failure
Rate of technical failures
Measured: up to 4 months
Delay to genetic diagnosis Result
Delay between the ACC diagnosis and genetic sequencing known genes responsible for ACC
Measured: up to 4 months
Parents decision to continue pregnancy
Number of continued pregnancies
Measured: up to 4 months
Parents decision to interrupt pregnancy
Number of interrupted pregnancies
Measured: up to 4 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jul 2018
- Study start28 Aug 2018
- Primary completion19 Oct 2019
- Study completion19 Oct 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fetal Agenesis of the Corpus Callosum (ACC)Studies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 31 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Héron Delphine, MD, Principal investigator, APHP
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03600792
- Sponsor's protocol ID
- NI18011J
- Acronym
- EXACC
- Status last verified
- Jan 2021
- First submitted
- 10 Jun 2018
- Last updated
- 19 Jan 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 19 Jan 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum
- ClinicalTrials.gov ID
- NCT03600792
- Acronym / sponsor ID
- EXACC / NI18011J
- Keywords
- Agenesis of the corpus callosum, whole exome sequencing, prenatal diagnosis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 31 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 28 Aug 2018 (actual)
- Primary completion
- 19 Oct 2019 (actual)
- Study completion
- 19 Oct 2019 (actual)
- First posted
- 26 Jul 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Family based
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 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 | Genetic | – |
Primary outcome
Technical success
Time frame: 5th week post diagnosis
Rate of technical success
5 secondary outcomes
Genetic diagnosis
Time frame: 5th week post diagnosis
Technical failure
Time frame: up to 4 months
Delay to genetic diagnosis Result
Time frame: up to 4 months
Parents decision to continue pregnancy
Time frame: up to 4 months
Parents decision to interrupt pregnancy
Time frame: up to 4 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jan 2021.
- Individual participant dataSharing planned: Undecided
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Héron Delphine, MD principal investigator
APHP
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fetal Agenesis of the Corpus Callosum (ACC), run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 19 Jan 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Technical success (time frame: 5th week post diagnosis). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Jan 2021.