Genetic Modifiers for 22q11.2 Syndrome (VCFS)

The recruitment status of this study is unknown because the information has not been verified recently.
Verified August 2010 by State University of New York - Upstate Medical University.
Recruitment status was  Recruiting
Sponsor:
Collaborator:
Albert Einstein College of Medicine of Yeshiva University
Information provided by:
State University of New York - Upstate Medical University
ClinicalTrials.gov Identifier:
NCT00916955
First received: March 24, 2008
Last updated: August 4, 2010
Last verified: August 2010
  Purpose

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 Intervention
22q11.2 Deletion Syndrome
Other: Observation

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Genetic Modifiers for 22q11.2 Syndrome

Resource links provided by NLM:


Further study details as provided by State University of New York - Upstate Medical University:

Primary Outcome Measures:
  • gene signal strength [ Time Frame: 4 years ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • physical phenotype [ Time Frame: 4 years ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

peripheral blood


Estimated Enrollment: 500
Study Start Date: March 2008
Estimated Study Completion Date: February 2011
Estimated Primary Completion Date: February 2011 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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

  Eligibility

Genders Eligible for Study:   Both
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:

  • none
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: 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 of Yeshiva University
Investigators
Principal Investigator: Robert J Shprintzen, PhD Upstate Medical University
Principal Investigator: Bernice Morrow, PhD Albert Einstein College of Medicine of Yeshiva University
  More 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
Study First Received: March 24, 2008
Last Updated: August 4, 2010
Health Authority: United States: Institutional Review Board

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:
DiGeorge Syndrome
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

ClinicalTrials.gov processed this record on August 20, 2014