Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome

September 27, 2023 updated by: Jesús González de la Aleja Tejera, Hospital Universitario 12 de Octubre

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

The purpose of this study is to assesses the clinical efficacy of oral supplementation with glutamine over 3 years.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

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 12-18 g/day of glutamine (adjusted for weight and plasma concentrations). The primary outcome measures modification in clinical scales.

Study Type

Interventional

Enrollment (Actual)

9

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Spain
      • Madrid, Spain, 28041
        • Hospital Universitario 12 de Octubre

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Description

Inclusion Criteria:

  • MELAS syndrome Clinically and genetically confirmed.
  • Patients have already participated in GLN-9-MIT study

Exclusion Criteria:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: MELAS
Patients with MELAS syndrome will receive 12-18g/day of glutamine
Dietary supplement: Glutamine oral supplement
12-18 g /day of glutamine supplementation

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Clinical efficacy; JMDRS
Time Frame: 36 months
Change from Baseline clinical scale (Japanese mitochondrial disease rating scale (JMDRS)) at 12,24,36 months to test Clinical efficacy of oral supplementation
36 months
Clinical efficacy; MMSE
Time Frame: 36 months
Change from Baseline cognitive test (Mini-Mental State Examination (MMSE)) at 12,24,36 months to test Clinical efficacy of oral supplementation
36 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of participants with treatment-related adverse events as assessed by CTCAE v5.0
Time Frame: 36 months
To recorde all adverse events grades; with special interest on investigations (CTCAE v5.0, 2017)
36 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hospital Universitario 12 de Octubre

Investigators

  • Principal Investigator: Jesús González de la Ajeja Tejera, MD, PhD, Hospital Universitario 12 Octubre

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 1, 2021

Primary Completion (Actual)

July 15, 2022

Study Completion (Estimated)

July 24, 2024

Study Registration Dates

First Submitted

January 19, 2022

First Submitted That Met QC Criteria

February 23, 2022

First Posted (Actual)

February 24, 2022

Study Record Updates

Last Update Posted (Actual)

September 28, 2023

Last Update Submitted That Met QC Criteria

September 27, 2023

Last Verified

September 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GLN-9-MIT2

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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