Examining genetic factors affecting 22q11.2 deletion syndrome severity
Genetic Modifiers of 22q11.2 Deletion Syndrome
Albert Einstein College of Medicine · NCT00556530
This study is trying to see if certain genetic differences in people with 22q11.2 deletion syndrome affect how severe their symptoms are.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Sex | All |
| Sponsor | Albert Einstein College of Medicine (other) |
| Locations | 1 site (New York, New York) |
| Trial ID | NCT00556530 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on 22q11.2 deletion syndrome, a genetic disorder that can lead to various health issues, including heart defects and developmental delays. The research aims to analyze DNA from individuals diagnosed with this syndrome to identify specific genetic variations that may influence the severity of their symptoms. Participants will provide either blood or saliva samples during a single study visit, which will be used for whole genome association analysis. The findings could help in understanding the genetic underpinnings of the disorder and its variable presentation.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals diagnosed with 22q11 deletion syndrome who have a deletion of 3 megabases or more.
Not a fit: Patients with a 22q11 deletion smaller than 3 megabases or those without any deletion will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding of 22q11.2 deletion syndrome, potentially guiding personalized treatment and management strategies for affected individuals.
How similar studies have performed: Other studies examining genetic factors in similar genetic disorders have shown promise, suggesting that this approach may yield valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Has 22q11 deletion of 3 megabases (Mb) Exclusion Criteria: * Has 22q11 deletion smaller than 3 Mb or no deletion
Where this trial is running
New York, New York
- Albert Einstein College of Medicine — New York, New York, United States (RECRUITING)
Study contacts
- Principal investigator: Bernice E. Morrow, PhD — Albert Einstein College of Medicine
- Study coordinator: Bernice E. Morrow, PhD
- Email: bernice.morrow@einsteinmed.edu
- Phone: 914-329-4653
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: DiGeorge Syndrome, 22q11.2 Deletion Syndrome, Congenital Heart Defects, Single Nucleotide Polymorphisms, Copy Number Variations, Whole Genome Association Study