Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome

Madrid Health Service

Status: Active, not recruiting

Conditions: MELAS Syndrome

Treatments: Dietary Supplement: Glutamine oral supplement

Study type: Interventional

Funder types: Other

Identifiers

NCT05255328

GLN-9-MIT2

Details and patient eligibility

About

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

Full 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.

Enrollment: 9 patients

Sex: All

Ages: 18+ years old

Volunteers: No 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

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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9 participants in 1 patient group

MELAS

Experimental group

Description:

Patients with MELAS syndrome will receive 12-18g/day of glutamine

Treatment:

Dietary Supplement: Glutamine oral supplement