Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

MONDO:0009069

Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

Also known as: COX deficiency, French-Canadian type, Leigh syndrome, French-Canadian type, Leigh syndrome, Saguenay-Lac-Saint-Jean type, SLSJ-COX deficiency, congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, cytochrome C oxidase deficiency, French-Canadian type, cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type, mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)

47 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Hereditary disease (172) Peripheral nervous system disorder (107) Neuromuscular disease (98) Peripheral neuropathy (90) Inborn mitochondrial metabolism disorder (57) Inborn errors of metabolism (42) Mitochondrial disease (39)

Trials to join now! 24 Not yet recruiting 5 Not yet finished but already full! 7 Completed 10 Terminated 1

New drug aims to tame hard-to-control seizures in rare mitochondrial disorders

Disease control Terminated

This study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …

Phase: PHASE2, PHASE3 • Sponsor: PTC Therapeutics • Aim: Disease control

Last updated Jun 27, 2026 12:03 UTC

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Broader categories

New drug aims to tame hard-to-control seizures in rare mitochondrial disorders