Leigh Syndrome Clinical Trials 2026 — Find Recruiting Studies

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 delay Hypotonia Brainstem dysfunction (respiratory irregularities, swallowing difficulties) Lactic acidosis Seizures Ophthalmoplegia and nystagmus Characteristic bilateral lesions on brain MRI

Clinical Trial Eligibility Tips

What to know before applying to Leigh Syndrome trials.

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.