An observational study in DiGeorge Syndrome and 22q11.2 Deletion Syndrome, sponsored by Albert Einstein College of Medicine. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-07-29.
Sponsored by Albert Einstein College of Medicine · Observational
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.
22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. Most people with this disorder are missing a sequence of about 3 million DNA building blocks on chromosome 22 within each cell. This disorder affects many areas of the body. People with 22q11.2 deletion syndrome may have heart defects, immune deficiency, kidney abnormalities, hearing loss, and cleft palate or other facial deformities. Many children experience developmental delays and learning disabilities, and they have an increased risk of developing mental illnesses, including schizophrenia, depression, anxiety, and bipolar disorder. All people with 22q11.2 deletion syndrome are missing the same sequence of DNA, but the severity of this disorder varies widely; some people are diagnosed with multiple health and developmental problems, while others experience very few symptoms. In some people, the symptoms may be so minimal that they are not even aware they have 22q11.2 deletion syndrome. This study will examine genetic material-either from blood or saliva-among people with 22q11.2 deletion syndrome. Participants will attend one study visit and undergo either blood or saliva collection. By analyzing the DNA sequences of participants, the study will aim to identify any genetic variations that may affect the severity of 22q11.2 deletion syndrome.
NOTE: Each clinical site is under the governance of its own Institutional Review Board and discretionary clinicaltrials.gov registration.
47 studies on the registry are indexed under DiGeorge Syndrome; 11 are open to participants now.
This study's planned enrollment of 1,000 is above the median of 175 across 17 observational studies indexed under DiGeorge Syndrome.
Browse DiGeorge Syndrome studies →Albert Einstein College of Medicine is the lead sponsor of 201 studies on the registry; 21 are open to participants now.
Of its 46 completed or terminated interventional studies of FDA-regulated products, 37 (80%) have results posted.
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People with 22q11.2 deletion syndrome
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The record gives a start of Jul 2016, a primary completion of Jun 2029 and a completion of Jun 2029. It does not say whether these dates are actual or estimated.
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