Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome

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

Status

UNKNOWN

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT05255328

Enrollment

Registered

2022-02-24

Start date

2021-07-01

Completion date

2024-07-24

Last updated

2023-09-28

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

MELAS Syndrome

Keywords

MELAS, Glutamine, Oral supplements, Amino acids

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.

Interventions

DIETARY_SUPPLEMENTGlutamine oral supplement

12-18 g /day of glutamine supplementation

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

Masking

NONE

Intervention model description

Glutamine oral supplementation

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Clinical efficacy; JMDRS	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
Clinical efficacy; MMSE	36 months	Change from Baseline cognitive test (Mini-Mental State Examination (MMSE)) at 12,24,36 months to test Clinical efficacy of oral supplementation

Secondary

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

Countries

Spain

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026