NCT00556530

Brief Summary

22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people. This study will analyze DNA from people with 22q11.2 deletion syndrome to identify genetic variations that may affect the severity of the disorder.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,000

participants targeted

Target at P75+ for all trials

Timeline
37mo left

Started Jul 2016

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress76%
Jul 2016Jun 2029

First Submitted

Initial submission to the registry

November 8, 2007

Completed
4 days until next milestone

First Posted

Study publicly available on registry

November 12, 2007

Completed
8.6 years until next milestone

Study Start

First participant enrolled

July 1, 2016

Completed
12.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2029

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

June 1, 2029

Last Updated

July 22, 2025

Status Verified

July 1, 2025

Enrollment Period

12.9 years

First QC Date

November 8, 2007

Last Update Submit

July 17, 2025

Conditions

DiGeorge Syndrome22q11.2 Deletion Syndrome

Keywords

Congenital Heart DefectsSingle Nucleotide PolymorphismsCopy Number VariationsWhole Genome Association Study

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

People with 22q11.2 deletion syndrome

You may qualify if:

  • Has 22q11 deletion of 3 megabases (Mb)

You may not qualify if:

  • Has 22q11 deletion smaller than 3 Mb or no deletion

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Albert Einstein College of Medicine

New York, New York, 10461, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood and saliva samples

MeSH Terms

Conditions

DiGeorge SyndromeHeart Defects, Congenital

Condition Hierarchy (Ancestors)

22q11 Deletion SyndromeCraniofacial AbnormalitiesMusculoskeletal AbnormalitiesMusculoskeletal DiseasesCardiovascular AbnormalitiesCardiovascular DiseasesHeart DiseasesLymphatic AbnormalitiesLymphatic DiseasesHemic and Lymphatic DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersGenetic Diseases, InbornHypoparathyroidismParathyroid DiseasesEndocrine System Diseases

Study Officials

  • Bernice E. Morrow, PhD

    Albert Einstein College of Medicine

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Bernice E. Morrow, PhD

CONTACT

914-329-4653bernice.morrow@einsteinmed.edu

Study Design

Study Type
observational
Observational Model
FAMILY BASED
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

November 8, 2007

First Posted

November 12, 2007

Study Start

July 1, 2016

Primary Completion (Estimated)

June 1, 2029

Study Completion (Estimated)

June 1, 2029

Last Updated

July 22, 2025

Record last verified: 2025-07

Locations

US(1)