Genetic Modifiers for 22q11.2 Syndrome (VCFS)

October 19, 2021 updated by: State University of New York - Upstate Medical University
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 Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • New York
      • Syracuse, New York, United States, 13210
        • VCFS International Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

All individuals with velo-cardio-facial syndrome confirmed by FISH

Description

Inclusion Criteria:

  • FISH confirmed diagnosis of 22q11.2 deletion syndrome

Exclusion Criteria:

  • none

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
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
Other: Observation
Observe development of syndrome over time

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
gene signal strength
Time Frame: 4 years
4 years

Secondary Outcome Measures

Outcome Measure
Time Frame
physical phenotype
Time Frame: 4 years
4 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

State University of New York - Upstate Medical University

Collaborators

Albert Einstein College of Medicine

Investigators

  • Principal Investigator: Bernice Morrow, PhD, Albert Einstein College Of Medicine

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

March 1, 2008

Primary Completion (ACTUAL)

February 1, 2015

Study Completion (ACTUAL)

February 1, 2015

Study Registration Dates

First Submitted

March 24, 2008

First Submitted That Met QC Criteria

June 8, 2009

First Posted (ESTIMATE)

June 10, 2009

Study Record Updates

Last Update Posted (ACTUAL)

October 20, 2021

Last Update Submitted That Met QC Criteria

October 19, 2021

Last Verified

August 1, 2010

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 3669FF

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on 22q11.2 Deletion Syndrome

Clinical Trials on Observation

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Togo

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe