CompletedNot Applicable

Macrophages, GM-CSF and MARS Proteinosis

France20 participantsStarted 2021-06-07

Plain-language summary

Mutations in the MARS gene encoding methionyl-tRNA synthetase are responsible for a genetic form of alveolar proteinosis (PAP), but the pathophysiological mechanisms of the respiratory phenotype are not known. The main hypothesis is that the PAP phenotype in these patients is secondary to a defective clearance of the surfactant by the alveolar macrophages. The main objective of the study is to study the clearance capacity of lipoproteinaceous material by macrophages of patients with MARS related PAP. This will be investigate in cultured macrophages derived from peripheral blood monocytes of patients (patients with MARS related PAP) and controls (patients without MARS related PAP).

Who can participate

Age range17 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Minors from 0 to 17 years hospitalized for their care at Necker Enfants Malades hospital and for whom a blood sample and a bronchoscopy with bronchoalveolar lavage must be performed as part of their care * Information and consent of the holders of parental authority and the patient Exclusion Criteria: \- Refusal of holders of parental authority or patient

What they're measuring

Measurement of the clearance

Timeframe: Day 0

Trial details

NCT IDNCT04811274

SponsorAssistance Publique - Hôpitaux de Paris

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2021-11-06

View on ClinicalTrials.gov More Pulmonary Alveolar Proteinosis (PAP) trials