Administration of Methionine in Patients With Pulmonary Alveolar Proteinosis by Mutation of the MARS Gene.
Status:
Completed
Trial end date:
2020-06-01
Target enrollment:
Participant gender:
Summary
The purpose of this study is to determine the safety and tolerance of an oral administration
of methionine in the treatment of pulmonary alveolar proteinosis due to the double mutation
Ala393Thr / Ser567Leu in the MARS gene. This disease is very severe and especially leads to
chronic respiratory insufficiency. There is no curative treatment for this disease. The MARS
gene encodes the methionine tRNA synthetase (MetRS). Mutations in this gene leads to a defect
in MetRS function. In cultured mutated yeast, addition of methionine in culture medium
restores MetRS function. Therefore, the investigators hypothesized that treatment of patients
with methionine could have beneficial effects on the disease.