Disease & disorder

22q11.2 deletion syndrome

MONDO:0018923

A chromosomal anomaly arising from the deletion of 22q11.2 region on the long arm region of chromosome 22, which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

Clinical trials5
Recruiting2
Drug concepts studied1
Synonyms14

Disease research snapshot

CureCurrent currently links 5 distinct registered clinical trials to 22q11.2 deletion syndrome through its MONDO disease mappings. 2 of those studies have the registry status “recruiting” (40%). These are registry statuses, not availability guarantees, study results or evidence of effectiveness.

The leading sponsor shown in this linked dataset is Bambino Gesù Hospital and Research Institute, associated with 1 distinct linked trials. This is a count of records, not a ranking of the sponsor's scientific quality.

The highest-count mapped research city in the current result is Austin, United States. Only site locations available in the published registry projection are counted; some trial sites may be missing or outdated.

The most frequently mapped drug concept in the current linked trials is sertraline (1 distinct trials). This describes what has been studied, not a recommended treatment.

Numbers are derived from CureCurrent's current ClinicalTrials.gov projection and conservative MONDO/RxNorm mappings. See sources, counting rules and limitations and verify eligibility or clinical findings with the original study record.

Research intelligence

Directly mapped studies only · unique clinical trials

Current registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.

Medications under investigation

Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.

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MONDO disease family

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Recruiting studies by city

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Trial status

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Investigated drug interventions

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Clinical trials

5 shown

How to interpret this record

CureCurrent links normalized diseases, medicines, registry study labels, sponsors and research sites. A link is not the same as a finding of clinical effectiveness. Our research guides explain how to compare studies, decode RxNorm identities, and avoid over-interpreting site and trial counts. See the published database coverage for mapping completeness.

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.