Corpus Callosum MalformationAGMCC1318NCT03680651
Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation
An observational study of Corpus Callosum Malformation and Prenatal Disorder, run by University Hospital, Brest at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 55 years
- Conditions the study is for
- Corpus Callosum Malformation, Prenatal Disorder
- How many people
- 275 participants
- Where
- 1 siteFrance
- Study dates
- 18 Jun 2018to Dec 2018
- 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 to 55 years
- All sexes
- No healthy volunteers
- Adult
Study population: Fetuses with prenatal diagnosis of corpus callosum malformation and antenatal molecular analysis by array CGH performed
Who may be able to join
- 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
Who cannot join
- No amniocentesis performed
- Refusing to participate
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
CHRU de Brest
Brest, 29200
Anne-Hélène Saliou, MD, 02 29 02 00 12, anne-helene.saliou@chu-brest.fr
Charlotte Caille-Benigni, Resident, 06 50 22 85 93, charlotte.caillebenigni@chu-brest.fr
About this study
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.
- Conditions
- Corpus Callosum Malformation, Prenatal Disorder
- Medical subject headings
- Agenesis of Corpus Callosum
What is being measured
The primary outcome is the main question the study is designed to answer.
frequency of chromosomal abnormalities
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.
Measured: 6 months
Secondary outcomes (1)
Type of chromosomal abnormalities
Describe the type of chromosomal abnormalities associated with a prenatal diagnosis of corpus callosum agenesis and thus identify recurrent copy number variations.
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Sep 2018
- Study start18 Jun 2018
- Primary completionDec 2018 (estimated)
- Study completionDec 2018 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Corpus Callosum MalformationStudies of the same condition, open and under way.
- More trials run by University Hospital, BrestThe 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
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 275 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Brest
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03680651
- Sponsor's protocol ID
- AGMCC1318 (29BRC18.0123)
- Acronym
- AGMCC1318
- Status last verified
- Jun 2018
- First submitted
- 30 Aug 2018
- Last updated
- 21 Sep 2018
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Sep 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation
- ClinicalTrials.gov ID
- NCT03680651
- Acronym / sponsor ID
- AGMCC1318 / AGMCC1318 (29BRC18.0123)
- Conditions
- Corpus Callosum Malformation, Prenatal Disorder
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 275 participants (estimated)
- Lead sponsor
- University Hospital, BrestUniversity, hospital or other
- Study start
- 18 Jun 2018 (actual)
- Primary completion
- Dec 2018 (estimated)
- Study completion
- Dec 2018 (estimated)
- First posted
- 21 Sep 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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- 18 to 55 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
- Study population
- Fetuses with prenatal diagnosis of corpus callosum malformation and antenatal molecular analysis by array CGH performed
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (2 listed)
- No amniocentesis performed
- Refusing to participate
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
1 secondary outcome
Type of chromosomal abnormalities
Time frame: 6 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Sep 2018.
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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.
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 Corpus Callosum Malformation and Prenatal Disorder, run by University Hospital, Brest 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 3 inclusion and 2 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: status not confirmed, as of the sponsor's last update on 21 Sep 2018. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Anne-Hélène Saliou, MD (02 29 02 00 12, anne-helene.saliou@chu-brest.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
frequency of chromosomal abnormalities (time frame: 6 months). 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 21 Sep 2018.