22q11.2 Deletion SyndromeVCFSNCT00916955
Genetic Modifiers for 22q11.2 Syndrome
An observational study of 22q11.2 Deletion Syndrome, run by State University of New York - Upstate Medical University at 1 site in United States.
Trial summary
The purpose of the project is the determination of how the deletion of DNA from chromosome 22 at the q11.2 band causes the phenotypes observed in velo-cardio-facial syndrome (VCFS). In other words, the purpose remains genotype-to-phenotype matching. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- 22q11.2 Deletion Syndrome
- What is being tested?
- Observation
- How many people
- Not given
- Where
- 1 siteUnited States
- Study dates
- Mar 2008to Feb 2015
- 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
- No healthy volunteers
- Child, Adult, Older adult
Study population: All individuals with velo-cardio-facial syndrome confirmed by FISH
Who may be able to join
- FISH confirmed diagnosis of 22q11.2 deletion syndrome
Who cannot join
- none
Trial locations and contacts
1 site in 1 country.
About this study
The purpose of the project is the determination of how the deletion of DNA from chromosome 22 at the q11.2 band causes the phenotypes observed in velo-cardio-facial syndrome (VCFS). In other words, the purpose remains genotype-to-phenotype matching. Current methods includes the use of whole genome chips and microarray analysis. Blood samples are collected for DNA from every patient who consents from the VCFS Center at Upstate Medical University. They are examined for phenotypic features consistent with our typical clinical evaluation. The information from these examinations will be entered anonymously into a database. Genomic information is then matched to clinical phenotype with appropriate statistical method applied.
- Conditions
- 22q11.2 Deletion Syndrome
- Being tested
- Observation
- Keywords
- 22q11.2 deletion syndrome, velo-cardio-facial syndrome, congenital anomalies, mental illness, congenital heart disease
- Medical subject headings
- DiGeorge Syndrome, Congenital Abnormalities, Mental Disorders, Heart Defects, Congenital
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ObservationOther
Observe development of syndrome over time
| Study group | Role | What they receive |
|---|---|---|
| Individuals with 22q11.2 deletions | Individuals confirmed with the diagnosis of velo-cardio-facial syndrome by positive FISH or CGH microarray confirming the diagnosis and deletion of 22q11.2 Receives: Other: Observation |
What is being measured
The primary outcome is the main question the study is designed to answer.
gene signal strength
Measured: 4 years
Secondary outcomes (1)
physical phenotype
Measured: 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jun 2009 (estimated)
- Study startMar 2008
- Primary completionFeb 2015
- Study completionFeb 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for 22q11.2 Deletion SyndromeStudies 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
- Cohort
- Time perspective
- Prospective
Sponsor and investigators
- Lead sponsor
- State University of New York - Upstate Medical University
- Sponsor type
- University, hospital or other
- Collaborators
- Albert Einstein College of Medicine
- Investigators
- Robert J Shprintzen, PhD, Principal investigator, Upstate Medical UniversityBernice Morrow, PhD, Principal investigator, Albert Einstein College of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00916955
- Sponsor's protocol ID
- 3669FF
- Acronym
- VCFS
- Status last verified
- Aug 2010
- First submitted
- 24 Mar 2008
- Last updated
- 20 Oct 2021
- Results posted
- No
- Data monitoring committee
- No
Publications
Shprintzen RJ, Higgins AM, Antshel K, Fremont W, Roizen N, Kates W. Velo-cardio-facial syndrome. Curr Opin Pediatr. 2005 Dec;17(6):725-30. doi: 10.1097/01.mop.0000184465.73833.0b.
PubMed 16282778
Study at a glance
From the registry record, last updated by the sponsor on 20 Oct 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Modifiers for 22q11.2 Syndrome
- ClinicalTrials.gov ID
- NCT00916955
- Acronym / sponsor ID
- VCFS / 3669FF
- Conditions
- 22q11.2 Deletion Syndrome
- Keywords
- 22q11.2 deletion syndrome, velo-cardio-facial syndrome, congenital anomalies, mental illness, congenital heart disease
- Study type
- Observational
- Recruitment status
- Completed
- Lead sponsor
- State University of New York - Upstate Medical UniversityUniversity, hospital or other
- Collaborators
- Albert Einstein College of Medicine
- Study start
- Mar 2008 (actual)
- Primary completion
- Feb 2015 (actual)
- Study completion
- Feb 2015 (actual)
- First posted
- 10 Jun 2009 (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.
The purpose of the project is the determination of how the deletion of DNA from chromosome 22 at the q11.2 band causes the phenotypes observed in velo-cardio-facial syndrome (VCFS). In other words, the purpose remains genotype-to-phenotype matching. Current methods includes the use of whole genome chips and microarray analysis. Blood samples are collected for DNA from every patient who consents from the VCFS Center at Upstate Medical University. They are examined for phenotypic features consistent with our typical clinical evaluation. The information from these examinations will be entered anonymously into a database. Genomic information is then matched to clinical phenotype with appropriate statistical method applied.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Individuals with 22q11.2 deletions | – | Other: ObservationIndividuals confirmed with the diagnosis of velo-cardio-facial syndrome by positive FISH or CGH microarray confirming the diagnosis and deletion of 22q11.2 |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All individuals with velo-cardio-facial syndrome confirmed by FISH
Key inclusion criteria (1 listed)
- FISH confirmed diagnosis of 22q11.2 deletion syndrome
Key exclusion criteria (1 listed)
- none
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 |
|---|---|---|
| ObservationObserve development of syndrome over time | Other | Individuals with 22q11.2 deletions |
Primary outcome
gene signal strength
Time frame: 4 years
1 secondary outcome
physical phenotype
Time frame: 4 years
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 20 Oct 2021.
- Results publication: PubMed 16282778Shprintzen RJ, Higgins AM, Antshel K, Fremont W, Roizen N, Kates W. Velo-cardio-facial syndrome. Curr Opin Pediatr. 2005 Dec;17(6):725-30. doi: 10.1097/01.mop.0000184465.73833.0b.
- Web site of the location for the investigationLink provided by the sponsor.
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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.
Robert J Shprintzen, PhD principal investigator
Upstate Medical University
Bernice Morrow, PhD principal investigator
Albert Einstein College of Medicine
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 22q11.2 Deletion Syndrome, run by State University of New York - Upstate Medical University at 1 site in United States.
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 1 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 20 Oct 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 United States. 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?
gene signal strength (time frame: 4 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00916955, which also lists 1 linked publication.
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 20 Oct 2021; AzTrials last refreshed its copy on 26 Oct 2026.