RecruitingNCT01780168
Mitochondrial
Leigh Syndrome
Also known as subacute necrotizing encephalomyelopathy, Leigh disease
Leigh syndrome is a severe, early-onset progressive neurodegenerative disorder caused by defects in mitochondrial energy production, resulting in characteristic bilateral symmetric lesions in the brainstem and basal ganglia. It is genetical
ORPHA:506 ↗Gene MT-ATP6Gene SURF1Gene SDHA (multiple)Prevalence Approximately 1 in 40,000 live birthsOnset Infantile (typically first 2 years of life); rarely adult onset
6
studies recruiting now
as of 7 Sept 2026
20
studies registered in total
as of 7 Sept 2026
6
countries with a recruiting site
as of 7 Sept 2026
13 May 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT05554835
Global Registry and Natural History Study for Mitochondrial Disorders
RecruitingNCT01694940
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
RecruitingNCT01793168
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
RecruitingNCT06967831
Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 6 recruiting 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 Leigh Syndrome study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: Leigh Syndrome Patient Registry (Global Leigh Map) · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Leigh Syndrome
Leigh syndrome is a severe, early-onset progressive neurodegenerative disorder caused by defects in mitochondrial energy production, resulting in characteristic bilateral symmetric lesions in the brainstem and basal ganglia. It is genetically heterogeneous, with causative mutations identified in both mitochondrial and nuclear DNA affecting multiple oxidative phosphorylation complexes. Prognosis is poor, with most affected children surviving only into early childhood, though adult-onset variants have been described.
Common clinical features
Psychomotor regression or developmental delayHypotoniaBrainstem dysfunction (respiratory irregularities, swallowing difficulties)Lactic acidosisSeizuresOphthalmoplegia and nystagmusCharacteristic bilateral lesions on brain MRI
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
3 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2Ubidecarenone
Phase 2Sirolimus (Fyarro)
Phase 2Vatiquinone
Before you apply
Things trial teams commonly ask about for Leigh Syndrome. Not eligibility rules; those are set by each study.
- Brain MRI demonstrating bilateral symmetric signal abnormalities in basal ganglia and/or brainstem is a key diagnostic criterion required for enrolment; ensure recent neuroimaging is available.
- Given genetic heterogeneity, comprehensive mitochondrial gene panel or whole exome sequencing results are increasingly required to stratify participants by genetic subtype.
- Leigh syndrome progression is episodic; enrolment windows may specify a stable neurological baseline for a minimum period to allow meaningful outcome assessment.
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).