Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome

Sponsor

Hospital Universitario 12 de Octubre (Other)

Overall Status

Active, not recruiting

CT.gov ID

NCT05255328

Collaborator

(none)

Enrollment

Location

Arm

Anticipated Duration (Months)

0.8

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The purpose of this study is to assesses the clinical efficacy of oral supplementation with glutamine over 12 months.

Condition or Disease	Intervention/Treatment	Phase
MELAS Syndrome	Dietary Supplement: Glutamine oral supplement	N/A

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.

Study Design

Study Type:

Interventional

Actual Enrollment :

9 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Intervention Model Description:

Glutamine oral supplementationGlutamine oral supplementation

Masking:

None (Open Label)

Primary Purpose:

Treatment

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.

Actual Study Start Date :

Jul 1, 2021

Actual Primary Completion Date :

Jan 15, 2022

Anticipated Study Completion Date :

Jul 1, 2022

Arms and Interventions

Arm	Intervention/Treatment
Experimental: MELAS Patients with MELAS syndrome will receive 12-18g/day of glutamine	Dietary Supplement: Glutamine oral supplement 12-18 g /day of glutamine supplementation

Arm

Intervention/Treatment

Experimental: MELAS

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

Dietary Supplement: Glutamine oral supplement

12-18 g /day of glutamine supplementation

Outcome Measures

Primary Outcome Measures

Clinical efficacy; JMDRS [12 months]
Change from Baseline clinical scale (Japanese mitochondrial disease rating scale (JMDRS)) at 12 months to test Clinical efficacy of oral supplementation
Clinical efficacy; MMSE [12 months]
Change from Baseline cognitive test (Mini-Mental State Examination (MMSE)) at 12 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 [12 months]
To recorde all adverse events grades; with special interest on investigations (CTCAE v5.0, 2017)

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts 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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Hospital Universitario 12 de Octubre	Madrid		Spain	28041

Sponsors and Collaborators

Hospital Universitario 12 de Octubre

Investigators

Principal Investigator: Jesús González de la Ajeja Tejera, MD, PhD, Hospital Universitario 12 Octubre

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Jesús González de la Aleja Tejera, Jesús González de la Aleja Tejera, MD, PhD, Principal Investigator, Hospital Universitario 12 de Octubre

ClinicalTrials.gov Identifier:

NCT05255328

Other Study ID Numbers:

GLN-9-MIT2

First Posted:

Feb 24, 2022

Last Update Posted:

Mar 11, 2022

Last Verified:

Feb 1, 2022

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Keywords provided by Jesús González de la Aleja Tejera, Jesús González de la Aleja Tejera, MD, PhD, Principal Investigator, Hospital Universitario 12 de Octubre

Additional relevant MeSH terms:

MELAS Syndrome

Syndrome

Study Results

No Results Posted as of Mar 11, 2022