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

NCT04948138 | Completed

• 1 other identifier: GLN-9-MIT
• Study Type: interventional
• Target: 9
• Locations: 1 country
• Sites: 1

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.

Conditions

MELAS Syndrome

Keywords

MELAS; Glutamine; Oral supplements; Lactate; Cerebrospinal fluid; Magnetic resonance spectroscopy

Outcome Measures

Primary Outcomes (2)

• Amino Acids concentration in cerebrospinal fluid

  Amino Acids (including glutamine) concentration measured in cerebrospinal fluid

  3 months

• Lactate concentration in cerebrospinal fluid

  Lactate concentration measured in cerebrospinal fluid

  3 months

Secondary Outcomes (1)

• Lactate measured by magnetic resonance spectroscopy.

  3 months

Study Arms (1)

MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome

EXPERIMENTAL

Patients with MELAS syndrome that will receive oral supplementation with 10-15 g/day of glutamine (adjusted for weight and plasma concentrations)

Dietary Supplement: Glutamine oral supplementation

Interventions

Glutamine oral supplementation DIETARY_SUPPLEMENT

Oral supplementation with 10-15 g/day of glutamine (adjusted for weight and plasma concentrations).

MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Jesús González de la Aleja Tejera: lead

Study Sites (1)

Hospital Universitario 12 de Octubre

Madrid, 28041, Spain

Location

Related Publications (2)

• Guerrero-Molina MP, Bernabeu-Sanz A, Ramos-Gonzalez A, Morales-Conejo M, Delmiro A, Dominguez-Gonzalez C, Arenas J, Martin MA, Gonzalez de la Aleja J. Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation. Neuroradiology. 2024 Mar;66(3):389-398. doi: 10.1007/s00234-023-03263-1. Epub 2023 Dec 19.

  PMID: 38114794 DERIVED

• Guerrero-Molina MP, Morales-Conejo M, Delmiro A, Moran M, Dominguez-Gonzalez C, Arranz-Canales E, Ramos-Gonzalez A, Arenas J, Martin MA, de la Aleja JG. High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome. Eur J Neurol. 2023 Feb;30(2):538-547. doi: 10.1111/ene.15626. Epub 2022 Nov 18.

  PMID: 36334048 DERIVED

MeSH Terms

Conditions

MELAS Syndrome

Condition Hierarchy (Ancestors)

Mitochondrial Encephalomyopathies; Mitochondrial Myopathies; Muscular Diseases; Musculoskeletal Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Neuromuscular Diseases; Vascular Diseases; Cardiovascular Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Mitochondrial Diseases

Study Officials

• Jesús González de la Aleja Tejera, MD, PhD

  Hospital Universitario 12 de Octubre

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Jesús González de la Aleja Tejera, MD, PhD

Model Details: Glutamine oral supplementation

Study Record Dates

• First Submitted: June 24, 2021
• First Posted: July 1, 2021
• Study Start: June 28, 2021
• Primary Completion: September 9, 2021
• Study Completion: October 6, 2021
• Last Updated: February 24, 2022

Record last verified: 2022-02

Data Sharing

• IPD Sharing: Will not share

Locations

ES (1)