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Administration of Methionine in Patients With Pulmonary Alveolar Proteinosis by Mutation of the MARS Gene. (MetPAP)
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.
Details
| Lead sponsor | Assistance Publique - Hôpitaux de Paris |
|---|---|
| Phase | PHASE1, PHASE2 |
| Status | COMPLETED |
| Enrolment | 3 |
| Start date | Mon Sep 16 2019 00:00:00 GMT+0000 (Coordinated Universal Time) |
| Completion | Mon Jun 01 2020 00:00:00 GMT+0000 (Coordinated Universal Time) |
Conditions
- Pulmonary Alveolar Proteinosis
- Mutation Ala393Thr of the MARS Gene
- mutationSer567Leu of the MARS Gene
Interventions
- Methionine
- Vitamin B12, B9, B6, C supplementation
- Methionine/homocysteine Dosage
- Thoracic CT scan
- Abdominal and liver ultrasound.
- Brain MRI
Countries
France