Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome

MELAS Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT05255328
• Other study ID #: GLN-9-MIT2
• Status: Active, not recruiting
• Phase: N/A
• Start date: July 1, 2021
• Est. completion date: July 24, 2024

Study information

• Verified date: September 2023
• Source: Hospital Universitario 12 de Octubre
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

The purpose of this study is to assesses the clinical efficacy of oral supplementation with glutamine over 3 years.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 9
• Est. completion date: July 24, 2024
• Est. primary completion date: July 15, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• MELAS Syndrome
• Syndrome

Intervention

Dietary Supplement:
• Glutamine oral supplement
12-18 g /day of glutamine supplementation

Locations

Country	Name	City	State
Spain	Hospital Universitario 12 de Octubre	Madrid

Sponsors (1)

Lead Sponsor	Collaborator
Hospital Universitario 12 de Octubre

Country where clinical trial is conducted

Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Clinical efficacy; JMDRS	Change from Baseline clinical scale (Japanese mitochondrial disease rating scale (JMDRS)) at 12,24,36 months to test Clinical efficacy of oral supplementation	36 months
Primary	Clinical efficacy; MMSE	Change from Baseline cognitive test (Mini-Mental State Examination (MMSE)) at 12,24,36 months to test Clinical efficacy of oral supplementation	36 months
Secondary	Number of participants with treatment-related adverse events as assessed by CTCAE v5.0	To recorde all adverse events grades; with special interest on investigations (CTCAE v5.0, 2017)	36 months