22q11.2 Deletion Syndrome (VCFS) Clinical Trials

22q11.2 deletion syndrome (also called DiGeorge syndrome or velocardiofacial syndrome) results from a 1.5-3 Mb microdeletion on chromosome 22q11.2, affecting approximately 50 genes. This is the most common recurrent microdeletion in humans, occurring in approximately 1 in 2,000-4,500 people. The deletion results from non-allelic homologous recombination between low copy repeats (LCRs) flanking the 22q11.2 region.

The most common symptoms of 22q11.2 Deletion Syndrome include Cardiac defects (conotruncal abnormalities, especially Tetralogy of Fallot), Cleft palate and velopharyngeal insufficiency, Immune deficiency from thymic hypoplasia, Hypocalcemia and hypoparathyroidism, Intellectual and developmental disability, among others. 22q11.2 Deletion Syndrome affects approximately 1 in 2,000 to 4,500 people; one of most common microdeletion syndromes. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for 22q11.2 Deletion Syndrome from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Cardiac screening with echocardiography is essential at diagnosis to identify structural defects; many patients require surgical correction of conotruncal abnormalities during infancy. Calcium and vitamin D supplementation address hypocalcemia from parathyroid hypoplasia; parathyroid hormone levels guide management.

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to 22q11.2 Deletion Syndrome. The Treatments section of this page checks FDA drug labels live and lists any approved drug whose label names the condition, and the trials listed below cover the investigational options.

22q11.2 Deletion Syndrome is caused by a change in chromosome structure or number rather than a single gene. Caused by a heterozygous ~3 Mb deletion at 22q11.2 (loss of TBX1 explains many features); detected by chromosomal microarray or FISH, and about 90% of deletions are de novo. It follows autosomal dominant, usually de novo inheritance. The condition affects approximately 1 in 2,000 to 4,500 people; one of most common microdeletion syndromes.

Yes. 22q11.2 Deletion Syndrome is a chromosomal condition rather than a single-gene one, so the test is a chromosomal microarray, FISH, karyotype or DNA methylation study, depending on the change, not gene sequencing. Caused by a heterozygous ~3 Mb deletion at 22q11.2 (loss of TBX1 explains many features); detected by chromosomal microarray or FISH, and about 90% of deletions are de novo.

It follows autosomal dominant, usually de novo inheritance.

The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for 22q11.2 Deletion Syndrome clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a 22q11.2 Deletion Syndrome clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.