Disease & disorder

tracheal agenesis

MONDO:0018058

Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.

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

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Background context

Tracheal agenesis

Tracheal agenesis (also known as tracheal atresia) is a rare birth defect with a prevalence of less than 1 in 50,000 in which the trachea fails to develop, resulting in an impaired communication between the larynx and the alveoli of the lungs. Although the defect is normally fatal, occasional cases have been reported of long-term survival following surgical intervention. The disease was first described in 1900 by Payne. To this date, it is estimated that about 200 cases have been reported and published worldwide. Several types of the disease have been described and the slight anatomical variations have resulted in the establishment of different classification systems. There are three main types of tracheal agenesis, designated Types I, II and III. In 2013, a South Korean child, Hannah Warren, born with tracheal agenesis, was successfully treated at Children's Hospital of Illinois, after having been kept alive in an intensive care unit for the first two and a half years of her life. An artificially created trachea was implanted, that had been created by tissue engineering, by using a nanofiber mesh, coated with her own stem cells. Although the transplant was successful, she died three months later from other health issues. The disease has been more frequently observed in males than in females, at a ratio of 2:1.

Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

Drugs being studied

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