Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
MONDO:0014206Also known as: PAP, Reunion island type, hereditary pulmonary alveolar proteinosis with hepatic involvement, interstitial lung and liver disease, pulmonary alveolar proteinosis, Reunion island type, ILLD, infantile liver failure syndrome 2, infantile liver failure syndrome 2, formerly, pulmonary alveolar proteinosis, Reunion Island
3 clinical trials for this condition and its sub-types.
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Could a simple amino acid ease a devastating lung condition?
Disease control CompletedThis study tested whether giving methionine (an amino acid) by mouth or feeding tube is safe and tolerable for children with a severe, inherited lung disease called pulmonary alveolar proteinosis. The disease is caused by a faulty MARS gene that prevents cells from using methioni…
Phase 1/2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jun 27, 2026 07:58 UTC
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Scientists investigate why rare lung disease develops in children
Knowledge-focused CompletedThis study looked at 20 children with a rare lung condition called pulmonary alveolar proteinosis (PAP) caused by changes in the MARS gene. Researchers wanted to understand if the lung cleaning cells (macrophages) are not working properly. They grew these cells in a lab from bloo…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:04 UTC