Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
MONDO:0009069Saguenay-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)
20 clinical trials for this condition and its sub-types.
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New drug aims to tame hard-to-control seizures in rare mitochondrial disorders
Disease control TerminatedThis 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
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Could a simple blood test track nerve damage? a study investigates NT-3 levels in neuropathy.
Knowledge-focused TerminatedThis study measures levels of a protein called NT-3 in the blood of people with peripheral neuropathy or Charcot-Marie-Tooth disease. Researchers will compare these levels with measures of muscle strength, mobility, and daily function. The goal is to see whether NT-3 levels corre…
Sponsor: Zarife Sahenk • Aim: Knowledge-focused
Last updated Jul 31, 2026 00:00 UTC