Mitochondrial oxidative phosphorylation disorder

This trial tests whether taking coenzyme Q10 (CoQ10) for 12 weeks can reduce fat buildup in the liver of people with mitochondrial diabetes, a rare form of diabetes caused by mitochondrial dysfunction. Participants with the m.3243A>G mutation will take 300 mg of CoQ10 daily, and …

This trial tests an experimental oral drug, TTI-0102, in people aged 5 to 55 with Leigh syndrome spectrum, a rare genetic disorder that damages the brain and nerves. The study aims to find the right dose and check safety over 12 weeks of twice-daily treatment. Participants will h…

This study tests an oral drug called glycerol tributyrate in 24 adults with MELAS or LHON-Plus, two rare mitochondrial diseases that cause severe symptoms like strokes and vision loss. The trial is open-label (everyone gets the drug) and uses each person as their own control over…

This study tests whether a person's own stem cells, processed and given by IV, can safely help with multiple system atrophy (MSA) — a rare, worsening brain disease that affects movement and automatic body functions like blood pressure. Fifty adults aged 35 to 65 will receive eith…

This early study tests whether high-dose vitamin B3 (nicotinamide) can help preserve or improve vision in people with Leber's hereditary optic neuropathy (LHON), a rare genetic disease that causes sudden vision loss. Researchers will give 13 participants 2 grams of vitamin B3 dai…

This pilot study aims to develop a new digital PCR technique to more accurately diagnose mitochondrial diseases. Researchers will test the method on blood, urine, saliva, and muscle fiber samples from 4 patients. If validated, the technique could be faster and cheaper than curren…