Genetic Modifiers for 22q11.2 Syndrome | NCT00916955

Studies
Genetic Modifiers for 22q11.2 Syndrome

NCT00916955

Sponsor

State University of New York - Upstate Medical University

Status

Completed

Last Update Posted

Oct 20, 2021Actual

Enrollment

Not provided

Phase

Not provided

Conditions

22q11.2 Deletion Syndrome

Interventions

Observation

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Aug 2010

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Mar 2008Actual

Primary Completion Date

Feb 2015Actual

Completion Date

Feb 2015Actual

First Submitted Date

Mar 24, 2008

First Submission Date that Met QC Criteria

Jun 8, 2009

First Posted Date

Jun 10, 2009Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Oct 19, 2021

Last Update Posted Date

Oct 20, 2021Actual

Name	Class
Albert Einstein College of Medicine	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

Not provided

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
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

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Observation	Other	Observe development of syndrome over time	Individuals with 22q11.2 deletions

Measure	Description	Time Frame
gene signal strength		4 years

Measure	Description	Time Frame
physical phenotype		4 years

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

FISH confirmed diagnosis of 22q11.2 deletion syndrome

Exclusion Criteria:

none

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

All individuals with velo-cardio-facial syndrome confirmed by FISH

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

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

Locations

Facility	Status	City	State	ZIP	Country	Contacts
VCFS International Center		Syracuse	New York	13210	United States

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
16282778	Result	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. doi: 10.1097/01.mop.0000184465.73833.0b.

ID	Term
D004062	DiGeorge Syndrome
D000013	Congenital Abnormalities
D001523	Mental Disorders
D006330	Heart Defects, Congenital

ID	Term
D058165	22q11 Deletion Syndrome
D019465	Craniofacial Abnormalities
D009139	Musculoskeletal Abnormalities
D009140	Musculoskeletal Diseases

ID	Term
D008722	Methods
D008919	Investigative Techniques