Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome
Primary Purpose
MELAS Syndrome
Status
Completed
Phase
Not Applicable
Locations
Spain
Study Type
Interventional
Intervention
Glutamine oral supplementation
Sponsored by
About this trial
This is an interventional treatment trial for MELAS Syndrome focused on measuring MELAS, Glutamine, Oral supplements, Lactate, Cerebrospinal fluid, Magnetic resonance spectroscopy
Eligibility Criteria
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.
Sites / Locations
- Hospital Universitario 12 de Octubre
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome
Arm Description
Patients with MELAS syndrome that will receive oral supplementation with 10-15 g/day of glutamine (adjusted for weight and plasma concentrations)
Outcomes
Primary Outcome Measures
Amino Acids concentration in cerebrospinal fluid
Amino Acids (including glutamine) concentration measured in cerebrospinal fluid
Lactate concentration in cerebrospinal fluid
Lactate concentration measured in cerebrospinal fluid
Secondary Outcome Measures
Lactate measured by magnetic resonance spectroscopy.
Cerebral Lactate measured by magnetic resonance spectroscopy.
Full Information
NCT ID
NCT04948138
First Posted
June 24, 2021
Last Updated
February 8, 2022
Sponsor
Jesús González de la Aleja Tejera
1. Study Identification
Unique Protocol Identification Number
NCT04948138
Brief Title
Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome
Official Title
Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome in Order to Prevent Neurological Damage.
Study Type
Interventional
2. Study Status
Record Verification Date
February 2022
Overall Recruitment Status
Completed
Study Start Date
June 28, 2021 (Actual)
Primary Completion Date
September 9, 2021 (Actual)
Study Completion Date
October 6, 2021 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor-Investigator
Name of the Sponsor
Jesús González de la Aleja Tejera
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
MELAS Syndrome
Keywords
MELAS, Glutamine, Oral supplements, Lactate, Cerebrospinal fluid, Magnetic resonance spectroscopy
7. Study Design
Primary Purpose
Treatment
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Model Description
Glutamine oral supplementation
Masking
None (Open Label)
Allocation
N/A
Enrollment
9 (Actual)
8. Arms, Groups, and Interventions
Arm Title
MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome
Arm Type
Experimental
Arm Description
Patients with MELAS syndrome that will receive oral supplementation with 10-15 g/day of glutamine (adjusted for weight and plasma concentrations)
Intervention Type
Dietary Supplement
Intervention Name(s)
Glutamine oral supplementation
Intervention Description
Oral supplementation with 10-15 g/day of glutamine (adjusted for weight and plasma concentrations).
Primary Outcome Measure Information:
Title
Amino Acids concentration in cerebrospinal fluid
Description
Amino Acids (including glutamine) concentration measured in cerebrospinal fluid
Time Frame
3 months
Title
Lactate concentration in cerebrospinal fluid
Description
Lactate concentration measured in cerebrospinal fluid
Time Frame
3 months
Secondary Outcome Measure Information:
Title
Lactate measured by magnetic resonance spectroscopy.
Description
Cerebral Lactate measured by magnetic resonance spectroscopy.
Time Frame
3 months
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Jesús González de la Aleja Tejera, MD, PhD
Organizational Affiliation
Hospital Universitario 12 de Octubre
Official's Role
Principal Investigator
Facility Information:
Facility Name
Hospital Universitario 12 de Octubre
City
Madrid
ZIP/Postal Code
28041
Country
Spain
12. IPD Sharing Statement
Plan to Share IPD
No
Citations:
PubMed Identifier
36334048
Citation
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.
Results Reference
derived
Learn more about this trial
Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome
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