Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome

NCT ID: NCT05255328

Last Updated: 2023-09-28

Basic Information

• Recruitment Status: UNKNOWN
• Clinical Phase: NA
• Total Enrollment: 9 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2021-07-01
• Study Completion Date: 2024-07-24

Brief 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

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

MELAS

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

Group Type: EXPERIMENTAL

Glutamine oral supplement

Intervention Type: DIETARY_SUPPLEMENT

12-18 g /day of glutamine supplementation

Interventions

Glutamine oral supplement

12-18 g /day of glutamine supplementation

Intervention Type: DIETARY_SUPPLEMENT

Eligibility Criteria

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Hospital Universitario 12 de Octubre

OTHER

Sponsor Role: lead

Responsible Party

Jesús González de la Aleja Tejera

Jesús González de la Aleja Tejera, MD, PhD, Principal Investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Jesús González de la Ajeja Tejera, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Hospital Universitario 12 Octubre

Locations

Hospital Universitario 12 de Octubre

Madrid, , Spain

Countries

Spain

Other Identifiers

GLN-9-MIT2

Identifier Type: -

Identifier Source: org_study_id