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Administration of Methionine in Patients With Pulmonary Alveolar Proteinosis by Mutation of the MARS Gene.

NCT03887169 · Status: COMPLETED · Phase: PHASE1/PHASE2 · Type: INTERVENTIONAL · Enrollment: 3

Last updated 2025-11-20

No results posted yet for this study

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.

Conditions

  • Pulmonary Alveolar Proteinosis
  • Mutation Ala393Thr of the MARS Gene
  • mutationSer567Leu of the MARS Gene

Interventions

DRUG

Methionine

Administration of methionine from D1 to D60

DRUG

Vitamin B12, B9, B6, C supplementation

In case of hyperhomocysteinemia

DIAGNOSTIC_TEST

Methionine/homocysteine Dosage

Plasma concentration control of methionine and homocysteine from D0 to D75

DIAGNOSTIC_TEST

Thoracic CT scan

At D60

DIAGNOSTIC_TEST

Abdominal and liver ultrasound.

At D60

DIAGNOSTIC_TEST

Brain MRI

In case of abnormal neurological examination

Sponsors & Collaborators

  • URC-CIC Paris Descartes Necker Cochin

    collaborator OTHER

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Alice HADCHOUEL, PhD · Hospital Necker Enfants Malades

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-09-16
Primary Completion
2020-06-01
Completion
2020-06-01

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03887169 on ClinicalTrials.gov