Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome
Primary Purpose
MELAS Syndrome
Status
Active
Phase
Not Applicable
Locations
Spain
Study Type
Interventional
Intervention
Glutamine oral supplement
Sponsored by
About this trial
This is an interventional treatment trial for MELAS Syndrome focused on measuring MELAS, Glutamine, Oral supplements, Amino acids
Eligibility Criteria
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
Sites / Locations
- Hospital Universitario 12 de Octubre
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
MELAS
Arm Description
Patients with MELAS syndrome will receive 12-18g/day of glutamine
Outcomes
Primary Outcome Measures
Clinical efficacy; JMDRS
Change from Baseline clinical scale (Japanese mitochondrial disease rating scale (JMDRS)) at 12,24,36 months to test Clinical efficacy of oral supplementation
Clinical efficacy; MMSE
Change from Baseline cognitive test (Mini-Mental State Examination (MMSE)) at 12,24,36 months to test Clinical efficacy of oral supplementation
Secondary Outcome Measures
Number of participants with treatment-related adverse events as assessed by CTCAE v5.0
To recorde all adverse events grades; with special interest on investigations (CTCAE v5.0, 2017)
Full Information
NCT ID
NCT05255328
First Posted
January 19, 2022
Last Updated
September 27, 2023
Sponsor
Hospital Universitario 12 de Octubre
1. Study Identification
Unique Protocol Identification Number
NCT05255328
Brief Title
Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome
Official Title
Clinical Long Term Evaluation of 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
September 2023
Overall Recruitment Status
Active, not recruiting
Study Start Date
July 1, 2021 (Actual)
Primary Completion Date
July 15, 2022 (Actual)
Study Completion Date
July 24, 2024 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Hospital Universitario 12 de Octubre
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 clinical efficacy of oral supplementation with glutamine over 3 years.
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.
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, Amino acids
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
Arm Type
Experimental
Arm Description
Patients with MELAS syndrome will receive 12-18g/day of glutamine
Intervention Type
Dietary Supplement
Intervention Name(s)
Glutamine oral supplement
Intervention Description
12-18 g /day of glutamine supplementation
Primary Outcome Measure Information:
Title
Clinical efficacy; JMDRS
Description
Change from Baseline clinical scale (Japanese mitochondrial disease rating scale (JMDRS)) at 12,24,36 months to test Clinical efficacy of oral supplementation
Time Frame
36 months
Title
Clinical efficacy; MMSE
Description
Change from Baseline cognitive test (Mini-Mental State Examination (MMSE)) at 12,24,36 months to test Clinical efficacy of oral supplementation
Time Frame
36 months
Secondary Outcome Measure Information:
Title
Number of participants with treatment-related adverse events as assessed by CTCAE v5.0
Description
To recorde all adverse events grades; with special interest on investigations (CTCAE v5.0, 2017)
Time Frame
36 months
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Jesús González de la Ajeja Tejera, MD, PhD
Organizational Affiliation
Hospital Universitario 12 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
Learn more about this trial
Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome
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