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Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome

Primary Purpose

MELAS Syndrome

Status

Active

Phase

Not Applicable

Locations

Spain

Study Type

Interventional

Intervention

Glutamine oral supplement

About this trial

This is an interventional treatment trial for MELAS Syndrome focused on measuring MELAS, Glutamine, Oral supplements, Amino acids

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

Hospital Universitario 12 de Octubre

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

MELAS

Arm Description

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

Outcomes

Primary Outcome Measures

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

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

Secondary Outcome Measures

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)

Full Information

NCT ID

NCT05255328

First Posted

January 19, 2022

Last Updated

September 27, 2023

Sponsor

Hospital Universitario 12 de Octubre

1. Study Identification

Unique Protocol Identification Number

NCT05255328

Brief Title

Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome

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.

Study Type

Interventional

2. Study Status

Record Verification Date

September 2023

Overall Recruitment Status

Active, not recruiting

Study Start Date

July 1, 2021 (Actual)

Primary Completion Date

July 15, 2022 (Actual)

Study Completion Date

July 24, 2024 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Principal Investigator

Name of the Sponsor

Hospital Universitario 12 de Octubre

4. Oversight

Studies a U.S. FDA-regulated Drug Product

Studies a U.S. FDA-regulated Device Product

Data Monitoring Committee

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

MELAS Syndrome

Keywords

MELAS, Glutamine, Oral supplements, Amino acids

7. Study Design

Primary Purpose

Treatment

Study Phase

Not Applicable

Interventional Study Model

Single Group Assignment

Model Description

Glutamine oral supplementation

Masking

None (Open Label)

Allocation

N/A

Enrollment

9 (Actual)

8. Arms, Groups, and Interventions

Arm Title

MELAS

Arm Type

Experimental

Arm Description

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

Intervention Type

Dietary Supplement

Intervention Name(s)

Glutamine oral supplement

Intervention Description

12-18 g /day of glutamine supplementation

Primary Outcome Measure Information:

Title

Clinical efficacy; JMDRS

Description

Change from Baseline clinical scale (Japanese mitochondrial disease rating scale (JMDRS)) at 12,24,36 months to test Clinical efficacy of oral supplementation

Time Frame

36 months

Title

Clinical efficacy; MMSE

Description

Change from Baseline cognitive test (Mini-Mental State Examination (MMSE)) at 12,24,36 months to test Clinical efficacy of oral supplementation

Time Frame

36 months

Secondary Outcome Measure Information:

Title

Number of participants with treatment-related adverse events as assessed by CTCAE v5.0

Description

To recorde all adverse events grades; with special interest on investigations (CTCAE v5.0, 2017)

Time Frame

36 months

10. Eligibility

Sex

All

Minimum Age & Unit of Time

18 Years

Accepts Healthy Volunteers

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

Overall Study Officials:

First Name & Middle Initial & Last Name & Degree

Jesús González de la Ajeja Tejera, MD, PhD

Organizational Affiliation

Hospital Universitario 12 Octubre

Official's Role

Principal Investigator

Facility Information:

Facility Name

Hospital Universitario 12 de Octubre

City

Madrid

ZIP/Postal Code

28041

Country

Spain

12. IPD Sharing Statement

Learn more about this trial

Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome

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