Hereditary pulmonary alveolar proteinosis
MONDO:0012580Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.
Also known as: congenital PAP, congenital pulmonary alveolar proteinosis, hereditary pulmonary alveolar proteinosis, inborn error of pulmonary surfactant metabolism, inborn error of surfactant metabolism, pulmonary alveolar proteinosis, congenital, sufactant metabolism dysfunction, pulmonary
6 clinical trials for this condition and its sub-types.
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Can a malaria drug help kids with rare lung disease?
Disease control Recruiting nowThis study tests whether hydroxychloroquine, a drug used for malaria and arthritis, can safely improve breathing in children with interstitial lung disease caused by genetic mutations. Researchers will enroll 60 children and randomly assign them to receive the drug or not, measur…
Early phase 1 • Sponsor: Children's Hospital of Fudan University • Aim: Disease control
Last updated Jun 27, 2026 11:02 UTC
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First human trial of Gene-Edited lung cells for rare breathing disorder
Disease control Recruiting nowThis study tests a new treatment for hereditary pulmonary alveolar proteinosis (hPAP), a rare lung disease where breathing becomes difficult. The therapy involves taking a patient's own lung cells, adding a working gene, and putting them back into the lungs. Only 3 people will jo…
Phase 1/2 • Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC