RecruitingNCT05554835
Mitochondrial
MELAS Syndrome
Also known as mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes, MT-TL1 mutation
MELAS syndrome is a maternally inherited mitochondrial disorder characterised by stroke-like episodes, encephalopathy, lactic acidosis, and a range of systemic manifestations including myopathy and diabetes. The most common causative varian
ORPHA:550 ↗Gene MT-TL1Gene MT-ND5 (mtDNA)Prevalence Approximately 1–9 per 100,000Onset Childhood to early adulthood (typically before age 40)
5
studies recruiting now
as of 7 Sept 2026
38
studies registered in total
as of 7 Sept 2026
9
countries with a recruiting site
as of 7 Sept 2026
11 Jun 2024
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 3NCT06451757
KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
RecruitingNCT01694940
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
RecruitingPhase 1NCT05241262
Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
RecruitingNCT01532791
Natural History Study - Mitochondrial Disease
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
Search all MELAS Syndrome studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new MELAS Syndrome study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: North American Mitochondrial Disease Consortium (NAMDC) Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
About MELAS Syndrome
MELAS syndrome is a maternally inherited mitochondrial disorder characterised by stroke-like episodes, encephalopathy, lactic acidosis, and a range of systemic manifestations including myopathy and diabetes. The most common causative variant is m.3243A>G in the MT-TL1 gene, which impairs mitochondrial protein synthesis globally. The stroke-like episodes are distinct from ischaemic stroke and are thought to result from impaired mitochondrial energy production in neurons rather than vascular occlusion.
Common clinical features
Stroke-like episodes with focal neurological deficitsSeizuresLactic acidosisSensorineural hearing lossMyopathy and exercise intoleranceDiabetes mellitusMigraine-like headaches
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
6 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2Idebenone (Raxone)
Phase 2Arginine
Phase 2Zagociguat
Phase 2Dichloroacetic Acid
Phase 1L-Citrulline
Phase 1Napazimone
Before you apply
Things trial teams commonly ask about for MELAS Syndrome. Not eligibility rules; those are set by each study.
- Mutation heteroplasmy level in blood or urine can influence eligibility; some trials require a minimum heteroplasmy percentage confirmed by next-generation sequencing.
- Acute stroke-like episodes may disqualify enrolment during the active event; apply during a clinically stable inter-episode period.
- Baseline plasma lactate, brain MRI, and audiological assessments are standard pre-screening requirements; ensure results are current.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).