VCFS: Genetic Modifiers for 22q11.2 Syndrome

Sponsor

State University of New York - Upstate Medical University (Other)

Overall Status

Completed

CT.gov ID

NCT00916955

Collaborator

Albert Einstein College of Medicine (Other)

Location

83.1

Actual Duration (Months)

Study Details

Study Description

Brief 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. 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.

Condition or Disease	Intervention/Treatment	Phase
22q11.2 Deletion Syndrome	Other: Observation

Study Design

Study Type:

Observational

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Genetic Modifiers for 22q11.2 Syndrome

Actual Study Start Date :

Mar 1, 2008

Actual Primary Completion Date :

Feb 1, 2015

Actual Study Completion Date :

Feb 1, 2015

Arms and Interventions

Arm	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

Arm

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

Outcome Measures

Primary Outcome Measures

gene signal strength [4 years]

Secondary Outcome Measures

physical phenotype [4 years]

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

FISH confirmed diagnosis of 22q11.2 deletion syndrome

Exclusion Criteria:

none

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	VCFS International Center	Syracuse	New York	United States	13210

Sponsors and Collaborators

State University of New York - Upstate Medical University
Albert Einstein College of Medicine

Investigators

Principal Investigator: Robert J Shprintzen, PhD, Upstate Medical University
Principal Investigator: Bernice Morrow, PhD, Albert Einstein College of Medicine