Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome

Not Applicable

Completed

• Conditions: MELAS Syndrome
• Interventions: Dietary Supplement: Glutamine oral supplementation

• Registration Number: NCT04948138
• Lead Sponsor: Jesús González de la Aleja Tejera

Brief Summary

The purpose of this study is to assesses the efficacy of oral supplementation with glutamine over three months on several amino acids and lactate concentration measured in cerebrospinal fluid and cerebral lactate measured by magnetic resonance spectroscopy.

Detailed Description

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous disorder. The most common mutation is in the mtDNA gene MT-TL1 encoding the mitochondrial tRNALeu (UUR). For understanding the development of seizures in patients with mitochondrial disease, a study has recently emphasized the deficiency of astrocytic glutamine synthetase, creating a disinhibited neuronal network for seizure generation. The investigators propose to evaluate nine patients with mitochondrial DNA mutation and MELAS. Patients will receive oral supplementation with 10-15 g/day of glutamine (adjusted for weight and plasma concentrations). The primary outcome measures several amino acids (including glutamine) and lactate concentration measured in cerebrospinal fluid and cerebral lactate measured by magnetic resonance spectroscopy.

Study Timeline

• Study First Submitted: 2021-06-24
• Study First Submitted QC: 2021-06-24
• Study Start: 2021-06-28
• Study First Posted: 2021-07-01
• Primary Completion: 2021-09-09
• Study Completion: 2021-10-06
• Status Verified: 2022-02
• Last Update Submitted: 2022-02-08
• Last Update Posted: 2022-02-24

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 9

Inclusion Criteria

• The diagnosis of MELAS syndrome is based on medical history (lactic acidosis, stroke-like episodes, and encephalomyopathy).
• Subjects have to be clinically stable for more than six months after any stroke-like episodes.
• All subjects have to be genetically confirmed.

Exclusion Criteria

• Subjects harboring a MELAS-related pathogenic mtDNA mutation, no fulfilling the complete diagnostic criteria for the MELAS phenotype.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome	Glutamine oral supplementation	Patients with MELAS syndrome that will receive oral supplementation with 10-15 g/day of glutamine (adjusted for weight and plasma concentrations)

Primary Outcome Measures

Name	Time	Method
Lactate concentration in cerebrospinal fluid	3 months	Lactate concentration measured in cerebrospinal fluid
Amino Acids concentration in cerebrospinal fluid	3 months	Amino Acids (including glutamine) concentration measured in cerebrospinal fluid

Secondary Outcome Measures

Name	Time	Method
Lactate measured by magnetic resonance spectroscopy.	3 months	Cerebral Lactate measured by magnetic resonance spectroscopy.

Trial Locations

Locations (1)

Hospital Universitario 12 de Octubre; 🇪🇸 Madrid, Spain