22q.11.2 Deletion/Duplication22QNCT02541058
Non-Invasive Chromosomal Evaluation of 22q11.2
An observational study of 22q.11.2 Deletion/Duplication, run by Cindy Cisneros at 1 site in Belgium.
Trial summary
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Harmony) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- 22q.11.2 Deletion/Duplication
- How many people
- 420 participants
- Where
- 1 siteBelgium
- Study dates
- Jun 2015to 17 Mar 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Pregnant women carrying a fetus at risk or a confirmed fetus with 22q11.2 deletion/duplication. A person confirmed to have 22q11.2 deletion/duplication or a biologically related parent of a child that has chromosomal deletion/duplication in the region of 22q11.2.
Who may be able to join
- Patient is ≥18 years of age and able to provide consent or, if under the age of 18, the patient has parental consent and child assent provided as required by the governing ethics committee.
- If pregnant, patients must have a singleton pregnancy and be at least 10 weeks gestation at the time of the study blood draw.
- Patients must meet at least one of the following conditions at the time of enrollment:
- are pregnant with abnormal fetal cardiac findings on ultrasound and is undergoing evaluation with prenatal genetic testing or planned post-natal genetic testing in the immediate newborn period;
- are pregnant with fetal ultrasound findings consistent with a 22q11.2 deletion/duplication phenotype and is undergoing evaluation with prenatal genetic testing or planned post-natal genetic testing in the immediate newborn period;
- are pregnant with a fetus known to have a 22q11.2 deletion/duplication confirmed by genetic testing with documentation is available;
- are biologically related parent of an enrolled child has chromosomal deletion/duplication in the region of 22q11.2;
- If the site is selected to enroll control patients, they must be pregnant women undergoing prenatal genetic evaluation for 22q11.2 deletion/duplication.
Who cannot join
- Patients meeting any of the following criteria will be excluded from the study:
- 1. Patient has history of malignancy treated with chemotherapy and/or major surgery, or bone marrow transplant.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Non-Invasive Chromosomal Evaluation of 22q11.2 Using Cell-free Fetal DNA From Maternal Plasma
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Harmony) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.
- Conditions
- 22q.11.2 Deletion/Duplication
- Keywords
- Velocardiofacial Syndrome, Shprintzen Syndrome, Conotruncal Defects, Chromosomal Abnormalities, 22q, 22q.11.2, deletion, duplication
- Medical subject headings
- DiGeorge Syndrome, Chromosome Aberrations
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 |
|---|---|---|
| Confirmed 22q.11.2 deletion/duplication | Not described | |
| Suspected 22q.11.2 deletion/duplication | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Performance of Ariosa 22q.11.2 deletion/duplication assay in prenatal patients
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Sep 2015 (estimated)
- Study startJun 2015
- Primary completion17 Mar 2020
- Study completion17 Mar 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for 22q.11.2 Deletion/DuplicationStudies of the same condition, open and under way.
- 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 420 participants (actual)
Sponsor and investigators
- Lead sponsor
- Cindy Cisneros
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor-investigator, Cindy Cisneros, Roche Sequencing Solutions
- Investigators
- Frank Ong, MD, Study director, Roche Sequencing Solutions
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02541058
- Sponsor's protocol ID
- AD202
- Acronym
- 22Q
- Status last verified
- Apr 2020
- First submitted
- 2 Sep 2015
- Last updated
- 30 Apr 2020
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 30 Apr 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Non-Invasive Chromosomal Evaluation of 22q11.2 Using Cell-free Fetal DNA From Maternal Plasma
- ClinicalTrials.gov ID
- NCT02541058
- Acronym / sponsor ID
- 22Q / AD202
- Conditions
- 22q.11.2 Deletion/Duplication
- Keywords
- Velocardiofacial Syndrome, Shprintzen Syndrome, Conotruncal Defects, Chromosomal Abnormalities, 22q, 22q.11.2, deletion, duplication
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 420 participants (actual)
- Lead sponsor
- Cindy CisnerosIndustry (pharma, biotech, devices)
- Study start
- Jun 2015
- Primary completion
- 17 Mar 2020 (actual)
- Study completion
- 17 Mar 2020 (actual)
- First posted
- 4 Sep 2015 (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.
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Harmony) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Confirmed 22q.11.2 deletion/duplication | – | – |
| Suspected 22q.11.2 deletion/duplication | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Pregnant women carrying a fetus at risk or a confirmed fetus with 22q11.2 deletion/duplication. A person confirmed to have 22q11.2 deletion/duplication or a biologically related parent of a child that has chromosomal deletion/duplication in the region of 22q11.2.
Key inclusion criteria (8 listed)
- Patient is ≥18 years of age and able to provide consent or, if under the age of 18, the patient has parental consent and child assent provided as required by the governing ethics committee.
- If pregnant, patients must have a singleton pregnancy and be at least 10 weeks gestation at the time of the study blood draw.
- Patients must meet at least one of the following conditions at the time of enrollment:
- If the site is selected to enroll control patients, they must be pregnant women undergoing prenatal genetic evaluation for 22q11.2 deletion/duplication.
Key exclusion criteria (2 listed)
- 1. Patient has history of malignancy treated with chemotherapy and/or major surgery, or bone marrow transplant.
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
Performance of Ariosa 22q.11.2 deletion/duplication assay in prenatal patients
Time frame: 18 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 30 Apr 2020.
- 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.
Frank Ong, MD study director
Roche Sequencing Solutions
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 22q.11.2 Deletion/Duplication, run by Cindy Cisneros at 1 site in Belgium.
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 8 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: finished, as of the sponsor's last update on 30 Apr 2020. 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 Belgium. 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?
Performance of Ariosa 22q.11.2 deletion/duplication assay in prenatal patients (time frame: 18 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 30 Apr 2020.