MELAS SyndromeNCT04948138
Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome
A study testing Glutamine oral supplementation in people with MELAS Syndrome, run by Jesús González de la Aleja Tejera at 1 site in Spain.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- MELAS Syndrome
- What is being tested?
- Glutamine oral supplementation
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 9 participants
- Where
- 1 siteSpain
- Study dates
- 28 Jun 2021to 6 Oct 2021
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- Subjects harboring a MELAS-related pathogenic mtDNA mutation, no fulfilling the complete diagnostic criteria for the MELAS phenotype.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome in Order to Prevent Neurological Damage.
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.
Read the 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.
- Conditions
- MELAS Syndrome
- Being tested
- Glutamine oral supplementation
- Keywords
- MELAS, Glutamine, Oral supplements, Lactate, Cerebrospinal fluid, Magnetic resonance spectroscopy
- Medical subject headings
- MELAS Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Glutamine oral supplementationDietary supplement
Oral supplementation with 10-15 g/day of glutamine (adjusted for weight and plasma concentrations).
| Study group | Role | What they receive |
|---|---|---|
| MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome | Experimental | Patients with MELAS syndrome that will receive oral supplementation with 10-15 g/day of glutamine (adjusted for weight and plasma concentrations) Receives: Dietary Supplement: Glutamine oral supplementation |
What is being measured
The primary outcome is the main question the study is designed to answer.
Amino Acids concentration in cerebrospinal fluid
Amino Acids (including glutamine) concentration measured in cerebrospinal fluid
Measured: 3 months
Lactate concentration in cerebrospinal fluid
Lactate concentration measured in cerebrospinal fluid
Measured: 3 months
Secondary outcomes (1)
Lactate measured by magnetic resonance spectroscopy.
Cerebral Lactate measured by magnetic resonance spectroscopy.
Measured: 3 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Jul 2021
- Study start28 Jun 2021
- Primary completion9 Sep 2021
- Study completion6 Oct 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for MELAS SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Glutamine oral supplementation
- Masking
- None (open label)
- Enrolment
- 9 participants (actual)
Sponsor and investigators
- Lead sponsor
- Jesús González de la Aleja Tejera
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Jesús González de la Aleja Tejera, Hospital Universitario 12 de Octubre
- Investigators
- Jesús González de la Aleja Tejera, MD, PhD, Principal investigator, Hospital Universitario 12 de Octubre
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04948138
- Sponsor's protocol ID
- GLN-9-MIT
- Status last verified
- Feb 2022
- First submitted
- 24 Jun 2021
- Last updated
- 24 Feb 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Guerrero-Molina MP, Bernabeu-Sanz A, Ramos-Gonzalez A, Morales-Conejo M, Delmiro A, Dominguez-Gonzalez C, Arenas J, Martin MA, Gonzalez de la Aleja J. Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation. Neuroradiology. 2024 Mar;66(3):389-398. doi: 10.1007/s00234-023-03263-1. Epub 2023 Dec 19.
PubMed 38114794Guerrero-Molina MP, Morales-Conejo M, Delmiro A, Moran M, Dominguez-Gonzalez C, Arranz-Canales E, Ramos-Gonzalez A, Arenas J, Martin MA, de la Aleja JG. High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome. Eur J Neurol. 2023 Feb;30(2):538-547. doi: 10.1111/ene.15626. Epub 2022 Nov 18.
PubMed 36334048
Study at a glance
From the registry record, last updated by the sponsor on 24 Feb 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome in Order to Prevent Neurological Damage.
- ClinicalTrials.gov ID
- NCT04948138
- Acronym / sponsor ID
- GLN-9-MIT
- Conditions
- MELAS Syndrome
- Keywords
- MELAS, Glutamine, Oral supplements, Lactate, Cerebrospinal fluid, Magnetic resonance spectroscopy
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 9 participants (actual)
- Lead sponsor
- Jesús González de la Aleja TejeraUniversity, hospital or other
- Study start
- 28 Jun 2021 (actual)
- Primary completion
- 9 Sep 2021 (actual)
- Study completion
- 6 Oct 2021 (actual)
- First posted
- 1 Jul 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Glutamine oral supplementation
| Arm | Type | Receives |
|---|---|---|
| MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome | Experimental | Dietary Supplement: Glutamine oral supplementationPatients with MELAS syndrome that will receive oral supplementation with 10-15 g/day of glutamine (adjusted for weight and plasma concentrations) |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- Subjects harboring a MELAS-related pathogenic mtDNA mutation, no fulfilling the complete diagnostic criteria for the MELAS phenotype.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Glutamine oral supplementationOral supplementation with 10-15 g/day of glutamine (adjusted for weight and plasma concentrations). | Dietary supplement | MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome |
Primary outcome
Amino Acids concentration in cerebrospinal fluid
Time frame: 3 months
Amino Acids (including glutamine) concentration measured in cerebrospinal fluid
Lactate concentration in cerebrospinal fluid
Time frame: 3 months
Lactate concentration measured in cerebrospinal fluid
1 secondary outcome
Lactate measured by magnetic resonance spectroscopy.
Time frame: 3 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Feb 2022.
- Derived from this study: PubMed 38114794Guerrero-Molina MP, Bernabeu-Sanz A, Ramos-Gonzalez A, Morales-Conejo M, Delmiro A, Dominguez-Gonzalez C, Arenas J, Martin MA, Gonzalez de la Aleja J. Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation. Neuroradiology. 2024 Mar;66(3):389-398. doi: 10.1007/s00234-023-03263-1. Epub 2023 Dec 19.
- Derived from this study: PubMed 36334048Guerrero-Molina MP, Morales-Conejo M, Delmiro A, Moran M, Dominguez-Gonzalez C, Arranz-Canales E, Ramos-Gonzalez A, Arenas J, Martin MA, de la Aleja JG. High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome. Eur J Neurol. 2023 Feb;30(2):538-547. doi: 10.1111/ene.15626. Epub 2022 Nov 18.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Jesús González de la Aleja Tejera, MD, PhD principal investigator
Hospital Universitario 12 de Octubre
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Glutamine oral supplementation in people with MELAS Syndrome, run by Jesús González de la Aleja Tejera at 1 site in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 24 Feb 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Amino Acids concentration in cerebrospinal fluid (time frame: 3 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04948138, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Feb 2022.