22q11 Deletion Syndrome Di George SyndromeNCT02890472
Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study
An observational study of 22q11 Deletion Syndrome Di George Syndrome, run by Centre Hospitalier Universitaire de Nīmes at 1 site in France.
Trial summary
22q11.2 microdeletion seems the prenatally under-diagnosed . Indeed , there is a mismatch between the series on the heart rate of 22q11.2 antenatal 84% against 30% in the adult series despite a perinatal mortality of 16% suggesting opportunities for improvement in the prenatal diagnosis of fetus with a microdeletion… Read more about this study
- Who is it for?
- Ages 18 years and older, women only
- Conditions the study is for
- 22q11 Deletion Syndrome Di George Syndrome
- How many people
- 13 participants
- Where
- 1 siteFrance
- Study dates
- 1 Oct 2017to 31 Dec 2020
- 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
- Women only
- No healthy volunteers
- Adult, Older adult
Study population: prenatal diagnosis of a fetal 22q11 deletion syndrome
Who may be able to join
- all prenatal diagnosis with FISH or CGH array of a fetal 22q11 deletion syndrome during the inclusion period.
- The pregnancy follow-up should be done one of the 44 french fetal medicine unit.
- Sonographic picture of 3 vessels slides should be communicated for independent review.
Who cannot join
- no sonographic picture available
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Research of Thymix Dysgenesis in Prenatal Examination of Deletion 22q11 Syndrome
22q11.2 microdeletion seems the prenatally under-diagnosed . Indeed , there is a mismatch between the series on the heart rate of 22q11.2 antenatal 84% against 30% in the adult series despite a perinatal mortality of 16% suggesting opportunities for improvement in the prenatal diagnosis of fetus with a microdeletion 22q11.2 , especially without heart disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| prenatal diagnosis of a fetal 22q11 deletion syndrome | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Thymic thoracic ratio " measurement on sonographic picture of the fetal 3 vessels slides will be done by independent investigator.
Measured: day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Sep 2016 (estimated)
- Study start1 Oct 2017
- Primary completion1 Jul 2020
- Study completion31 Dec 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for 22q11 Deletion Syndrome Di George SyndromeStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire de NīmesThe 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
- Prospective
- Enrolment
- 13 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nīmes
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02890472
- Sponsor's protocol ID
- LOCAL/2015/EM-01
- Status last verified
- Jan 2021
- First submitted
- 26 Aug 2016
- Last updated
- 27 Jan 2021
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 27 Jan 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Research of Thymix Dysgenesis in Prenatal Examination of Deletion 22q11 Syndrome
- ClinicalTrials.gov ID
- NCT02890472
- Acronym / sponsor ID
- LOCAL/2015/EM-01
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 13 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de NīmesUniversity, hospital or other
- Study start
- 1 Oct 2017 (actual)
- Primary completion
- 1 Jul 2020 (actual)
- Study completion
- 31 Dec 2020 (actual)
- First posted
- 7 Sep 2016 (estimated)
- 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.
22q11.2 microdeletion seems the prenatally under-diagnosed . Indeed , there is a mismatch between the series on the heart rate of 22q11.2 antenatal 84% against 30% in the adult series despite a perinatal mortality of 16% suggesting opportunities for improvement in the prenatal diagnosis of fetus with a microdeletion 22q11.2 , especially without heart disease
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| prenatal diagnosis of a fetal 22q11 deletion syndrome | – | – |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- prenatal diagnosis of a fetal 22q11 deletion syndrome
Key inclusion criteria (3 listed)
- all prenatal diagnosis with FISH or CGH array of a fetal 22q11 deletion syndrome during the inclusion period.
- The pregnancy follow-up should be done one of the 44 french fetal medicine unit.
- Sonographic picture of 3 vessels slides should be communicated for independent review.
Key exclusion criteria (1 listed)
- no sonographic picture available
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
Thymic thoracic ratio " measurement on sonographic picture of the fetal 3 vessels slides will be done by independent investigator.
Time frame: day 0
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 27 Jan 2021.
- Individual participant dataSharing planned: Yes
Related trials for 22q11 Deletion Syndrome Di George Syndrome
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RecruitingObservational study
Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 22q11 Deletion Syndrome Di George Syndrome, run by Centre Hospitalier Universitaire de Nīmes 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 1 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 27 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?
Thymic thoracic ratio " measurement on sonographic picture of the fetal 3 vessels slides will be done by independent investigator. (time frame: day 0). 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 27 Jan 2021.