Japanese Leigh syndrome case treated with EPI-743

Area of Science:

• Mitochondrial Medicine
• Neuroscience
• Genetics

Background:

• Leigh syndrome is a severe mitochondrial disorder stemming from respiratory chain defects, with limited therapeutic options.
• EPI-743 is recognized for its potent antioxidant properties, with emerging clinical data in mitochondrial diseases.

Observation:

• A 5-month-old infant diagnosed with Leigh encephalopathy presented with significant motor impairments.
• Genetic analysis identified a T10158C mutation in the ND3 gene of mitochondrial DNA, affecting Complex I.
• Initial treatment with succinate worsened the patient's condition.

Findings:

• Following succinate discontinuation, EPI-743 administration led to marked improvements in eye movement, limb motor function, and bowel motility.
• The patient, now 5 years old, shows continued survival with EPI-743, despite ongoing brain atrophy.
• The patient experiences periods of respiratory independence.

Implications:

• EPI-743 treatment demonstrated a visible positive impact on a Leigh syndrome patient.
• This case suggests EPI-743 may potentially modify the natural progression of Leigh syndrome.
• The patient's prolonged survival highlights the potential of EPI-743 as a therapeutic agent.