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Genetic Modifiers for 22q11.2 Syndrome (VCFS)

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ClinicalTrials.gov Identifier: NCT00916955
Recruitment Status : Unknown
Verified August 2010 by State University of New York - Upstate Medical University.
Recruitment status was:  Recruiting
First Posted : June 10, 2009
Last Update Posted : January 6, 2015
Sponsor:
Collaborator:
Albert Einstein College of Medicine, Inc.
Information provided by:
State University of New York - Upstate Medical University

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
22q11.2 Deletion Syndrome Other: Observation

Study Type : Observational
Estimated Enrollment : 500 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Genetic Modifiers for 22q11.2 Syndrome
Study Start Date : March 2008
Estimated Primary Completion Date : February 2015
Estimated Study Completion Date : February 2015


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



Primary Outcome Measures :
  1. gene signal strength [ Time Frame: 4 years ]

Secondary Outcome Measures :
  1. physical phenotype [ Time Frame: 4 years ]

Biospecimen Retention:   Samples With DNA
peripheral blood


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
All individuals with velo-cardio-facial syndrome confirmed by FISH
Criteria

Inclusion Criteria:

  • FISH confirmed diagnosis of 22q11.2 deletion syndrome

Exclusion Criteria:


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00916955


Contacts
Contact: Anne Marie Higgins, RN, FNP, MA 315-464-6595 HigginsA@upstate.edu
Contact: Robert J Shprintzen, PhD 315-464-6590 shprintr@upstate.edu

Locations
United States, New York
VCFS International Center Recruiting
Syracuse, New York, United States, 13210
Contact: Anne Marie Higgins, RN, FNP, MA    315-464-6595    HigginsA@upstate.edu   
Contact: Robert J Shprintzen, PhD    315-464-6590    shprintr@upstate.edu   
Sponsors and Collaborators
State University of New York - Upstate Medical University
Albert Einstein College of Medicine, Inc.
Investigators
Principal Investigator: Robert J Shprintzen, PhD Upstate Medical University
Principal Investigator: Bernice Morrow, PhD Albert Einstein College of Medicine, Inc.

Additional Information:
Publications:
Responsible Party: Bernice Morrow, Ph.D., Albert Einstein College of Medicine
ClinicalTrials.gov Identifier: NCT00916955     History of Changes
Other Study ID Numbers: 3669FF
First Posted: June 10, 2009    Key Record Dates
Last Update Posted: January 6, 2015
Last Verified: August 2010

Keywords provided by State University of New York - Upstate Medical University:
22q11.2 deletion syndrome
velo-cardio-facial syndrome
congenital anomalies
mental illness
congenital heart disease

Additional relevant MeSH terms:
Syndrome
DiGeorge Syndrome
Disease
Pathologic Processes
22q11 Deletion Syndrome
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Lymphatic Abnormalities
Lymphatic Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Hypoparathyroidism
Parathyroid Diseases
Endocrine System Diseases