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Trial record 33 of 54 for:    "Acrocephalosyndactylia" OR "Apert syndrome" OR "Craniosynostoses"

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
Information provided by:
State University of New York - Upstate Medical University

Tracking Information
First Submitted Date March 24, 2008
First Posted Date June 10, 2009
Last Update Posted Date January 6, 2015
Study Start Date March 2008
Estimated Primary Completion Date February 2015   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: June 8, 2009)
gene signal strength [ Time Frame: 4 years ]
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT00916955 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: June 8, 2009)
physical phenotype [ Time Frame: 4 years ]
Original Secondary Outcome Measures Same as current
Current Other Outcome Measures Not Provided
Original Other Outcome Measures Not Provided
 
Descriptive Information
Brief Title Genetic Modifiers for 22q11.2 Syndrome
Official Title Genetic Modifiers for 22q11.2 Syndrome
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.
Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
peripheral blood
Sampling Method Non-Probability Sample
Study Population All individuals with velo-cardio-facial syndrome confirmed by FISH
Condition 22q11.2 Deletion Syndrome
Intervention Other: Observation
Observe development of syndrome over time
Study Groups/Cohorts 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
Intervention: Other: Observation
Publications * 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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: June 8, 2009)
500
Original Estimated Enrollment Same as current
Estimated Study Completion Date February 2015
Estimated Primary Completion Date February 2015   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • FISH confirmed diagnosis of 22q11.2 deletion syndrome

Exclusion Criteria:

Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00916955
Other Study ID Numbers 3669FF
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Bernice Morrow, Ph.D., Albert Einstein College of Medicine
Study Sponsor State University of New York - Upstate Medical University
Collaborators 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
PRS Account State University of New York - Upstate Medical University
Verification Date August 2010