Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome in Order to Prevent Neurological Damage.
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- Enrollment
- 9
- Locations
- 2
- Primary Endpoint
- Lactate concentration in cerebrospinal fluid
Study Overview
Brief 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.
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Treatment
- Masking
- None
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •The diagnosis of MELAS syndrome is based on medical history (lactic acidosis, stroke-like episodes, and encephalomyopathy).
- •Subjects have to be clinically stable for more than six months after any stroke-like episodes.
- •All subjects have to be genetically confirmed.
Exclusion Criteria
- •Subjects harboring a MELAS-related pathogenic mtDNA mutation, no fulfilling the complete diagnostic criteria for the MELAS phenotype.
Outcomes
Primary Outcomes
Lactate concentration in cerebrospinal fluid
Time Frame: 3 months
Lactate concentration measured in cerebrospinal fluid
Amino Acids concentration in cerebrospinal fluid
Time Frame: 3 months
Amino Acids (including glutamine) concentration measured in cerebrospinal fluid
Secondary Outcomes
- Lactate measured by magnetic resonance spectroscopy.(3 months)
Investigators
Jesús González de la Aleja Tejera
Jesús González de la Aleja Tejera, MD, PhD
Hospital Universitario 12 de Octubre