NCT04948138

Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome

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

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 9 (actual)
• Sponsor: Jesús González de la Aleja Tejera · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• MELAS Syndrome

Interventions

Type	Name	Description
DIETARY_SUPPLEMENT	Glutamine oral supplementation	Oral supplementation with 10-15 g/day of glutamine (adjusted for weight and plasma concentrations).

Timeline

• Start date: 2021-06-28
• Primary completion: 2021-09-09
• Completion: 2021-10-06
• First posted: 2021-07-01
• Last updated: 2022-02-24

Locations

1 site across 1 country: Spain