Overview

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:
0
Participant gender:
All
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.
Phase:
Phase 1/Phase 2
Accepts Healthy Volunteers?
No
Details
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Treatments:
Hydroxocobalamin
Vitamin B 12
Criteria
Inclusion Criteria:

- Minor Patient with alveolar proteinosis by double mutation Ala393Thr and SER567LEU of
the MARS gene, genetically proven.

- Patient in need of prolonged hospitalization in Necker for treatment of
bronchial-alveolar washes in the context of care.

- Patient for which methionine can be administered orally or by enteral probe
(Nasogastric or gastrostomy probe)

- Signed Informed consent form by parents / legal guardian

Exclusion Criteria:

- Patient with alveolar proteinosis by other mutations of the MARS gene

- Patient with alveolar proteinosis secondary to another etiology or without identified
cause

- Refusal to participate in the study

- High blood pressure requiring drug treatment

- Heart failure

- Known hypersensitivity to one of the substances used or potentially used in the study:
methionine, vitamins B6, B12, B9 and C

- Pre-Hypermethioninemia (Methioninemia > + 2 DS of normal for age) whatever the cause