Genetic Modifiers for 22q11.2 Syndrome

22q11.2 Deletion Syndrome Clinical Trial

— VCFS  

Official title:

Genetic Modifiers for 22q11.2 Syndrome

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00916955
• Other study ID #: 3669FF
• Status: Completed
• Start date: March 2008
• Est. completion date: February 2015

Study information

• Verified date: August 2010
• Source: State University of New York - Upstate Medical University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical 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. 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 0
• Est. completion date: February 2015
• Est. primary completion date: February 2015
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• FISH confirmed diagnosis of 22q11.2 deletion syndrome

Exclusion Criteria:

• none

Related Conditions & MeSH terms

• 22q11.2 Deletion Syndrome
• DiGeorge Syndrome
• Syndrome

Intervention

Other:
• Observation
Observe development of syndrome over time

Locations

Country	Name	City	State
United States	VCFS International Center	Syracuse	New York

Sponsors (2)

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

Country where clinical trial is conducted

United States, 

References & Publications (1)

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. Review. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	gene signal strength		4 years
Secondary	physical phenotype		4 years

External Links

•   Web site of the location for the investigation