Inborn mitochondrial metabolism 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 a new tool called the Snouda Metabolic Score (SMS) that helps doctors identify the specific metabolic problems driving Type 2 Diabetes in each patient. 150 adults will follow a personalized 24-week lifestyle and nutrition plan based on their SMS results. The goal…

This study tests whether a structured 12-week program focusing on nutrition, exercise, sleep, and stress management can improve fatigue, physical function, and quality of life in people with relapsing-remitting multiple sclerosis. Thirty participants will first be observed for 12…

This study is for people who completed a previous trial of KL1333 (napazimone) for primary mitochondrial disease. It will test the drug's long-term safety and whether it helps with fatigue and daily activities. About 140 participants will take the pill twice daily for an extended…

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…

This study follows people with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) over time to learn how the condition progresses and affects daily life. Researchers will collect health data and patient feedback to identify patterns and potential markers of the disease. The goal i…

This study examines how a type of immune cell called gamma delta T cells adapt and function in critically ill patients, both with and without sepsis. Researchers will compare these cells in healthy people, non-septic ICU patients, and septic ICU patients. The goal is to understan…

This study looks at how aging changes tiny parts of our cells called mitochondria, which produce energy. Researchers will take small skin samples and blood from 90 healthy adults aged 18-90 to measure inflammation and cell aging markers. The goal is to better understand why we ag…

This study looks at how abnormal proteins, like alpha-synuclein and tau, build up and affect brain function in people with Parkinson's disease. Researchers will use brain scans, blood tests, and skin biopsies to track these changes. The goal is to find better ways to diagnose and…