NCT05255328

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
• Phase: N/A
• Study type: Interventional
• Enrollment: 9 (actual)
• Sponsor: Hospital Universitario 12 de Octubre · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• MELAS Syndrome

Interventions

Type	Name	Description
DIETARY_SUPPLEMENT	Glutamine oral supplement	12-18 g /day of glutamine supplementation

Timeline

• Start date: 2021-07-01
• Primary completion: 2022-07-15
• Completion: 2024-07-24
• First posted: 2022-02-24
• Last updated: 2023-09-28

Locations

1 site across 1 country: Spain