Actively Recruiting
Genetic Modifiers of 22q11.2 Deletion Syndrome
Led by Albert Einstein College of Medicine · Updated on 2025-07-22
1000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
A
Albert Einstein College of Medicine
Lead Sponsor
N
National Heart, Lung, and Blood Institute (NHLBI)
Collaborating Sponsor
AI-Summary
What this Trial Is About
22q11.2 deletion syndrome is a genetic disorder caused by the loss of a small part of chromosome 22. It can lead to a range of health issues including heart defects, facial abnormalities, immune deficiencies, kidney problems, hearing loss, developmental delays, learning disabilities, and increased risk of mental illnesses. The severity of symptoms varies widely among individuals, with some experiencing many problems and others having very few or none at all. This study seeks to understand why the severity differs by examining genetic variations in people with this syndrome. Participants will provide a sample of either blood or saliva during one study visit. Researchers will analyze the DNA from these samples to identify genetic differences that might influence how severe the disorder is in each person. This observational study does not involve treatments or interventions but focuses solely on genetic analysis. During the single visit, participants will undergo sample collection and may be asked to provide some medical history information. The main goal is to study the genetic material to find variations that could explain differences in symptom severity. There are no further visits or treatments, and the total time commitment is limited to the one study visit for sample collection and assessment.
CONDITIONS
Brief Title
Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Has 22q11 deletion of 3 megabases (Mb)
You will not qualify if you...
- Has 22q11 deletion smaller than 3 megabases (Mb) or no deletion
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 1 day
Participants provide a blood or saliva sample for genetic analysis to examine variations affecting the severity of 22q11.2 deletion syndrome.
1 visit (in-person)
Trial Site Locations
Total: 1 location
1
Albert Einstein College of Medicine
New York, New York, United States, 10461
Actively Recruiting
Research Team
B
Bernice E. Morrow, PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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