Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome

Not Applicable

Active, not recruiting

• Conditions: MELAS Syndrome
• Interventions: Dietary Supplement: Glutamine oral supplement

• Registration Number: NCT05255328
• Lead Sponsor: Hospital Universitario 12 de Octubre

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.

Study Timeline

• Study Start: 2021-07-01
• Study First Submitted: 2022-01-19
• Study First Submitted QC: 2022-02-23
• Study First Posted: 2022-02-24
• Primary Completion: 2022-07-15
• Status Verified: 2023-09
• Last Update Submitted: 2023-09-27
• Last Update Posted: 2023-09-28
• Study Completion: 2024-07-24

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 9

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
MELAS	Glutamine oral supplement	Patients with MELAS syndrome will receive 12-18g/day of glutamine

Primary Outcome Measures

Name	Time	Method
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
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

Secondary Outcome Measures

Name	Time	Method
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)

Trial Locations

Locations (1)

Hospital Universitario 12 de Octubre; 🇪🇸 Madrid, Spain