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

MELAS Syndrome Clinical Trial

Official title:

Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome in Order to Prevent Neurological Damage.

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04948138
• Other study ID #: GLN-9-MIT
• Status: Completed
• Phase: N/A
• Start date: June 28, 2021
• Est. completion date: October 6, 2021

Study information

• Verified date: February 2022
• Source: Hospital Universitario 12 de Octubre
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 9
• Est. completion date: October 6, 2021
• Est. primary completion date: September 9, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Acidosis
• Acidosis, Lactic
• Brain Diseases
• MELAS Syndrome
• Syndrome

Intervention

Dietary Supplement:
• Glutamine oral supplementation
Oral supplementation with 10-15 g/day of glutamine (adjusted for weight and plasma concentrations).

Locations

Country	Name	City	State
Spain	Hospital Universitario 12 de Octubre	Madrid

Sponsors (1)

Lead Sponsor	Collaborator
Jesús González de la Aleja Tejera

Country where clinical trial is conducted

Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Amino Acids concentration in cerebrospinal fluid	Amino Acids (including glutamine) concentration measured in cerebrospinal fluid	3 months
Primary	Lactate concentration in cerebrospinal fluid	Lactate concentration measured in cerebrospinal fluid	3 months
Secondary	Lactate measured by magnetic resonance spectroscopy.	Cerebral Lactate measured by magnetic resonance spectroscopy.	3 months