MELAS Syndrome
Conditions
Keywords
MELAS, Glutamine, Oral supplements, Lactate, Cerebrospinal fluid, Magnetic resonance spectroscopy
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.
Interventions
DIETARY_SUPPLEMENTGlutamine oral supplementation
Oral supplementation with 10-15 g/day of glutamine (adjusted for weight and plasma concentrations).
Sponsors
Jesús González de la Aleja Tejera
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Intervention model description
Glutamine oral supplementation
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Amino Acids concentration in cerebrospinal fluid | 3 months | Amino Acids (including glutamine) concentration measured in cerebrospinal fluid |
| Lactate concentration in cerebrospinal fluid | 3 months | Lactate concentration measured in cerebrospinal fluid |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Lactate measured by magnetic resonance spectroscopy. | 3 months | Cerebral Lactate measured by magnetic resonance spectroscopy. |
Countries
Spain
Outcome results
None listed