Inborn disorder of energy metabolism

This early-stage trial is testing an experimental oral medication called S-606001 in adults with late-onset Pompe disease, a condition that causes progressive muscle weakness and breathing problems. The main goal is to see if the drug is safe and tolerable. Researchers will also …

This study tests the long-term safety and effectiveness of an experimental oral drug called S-606001 in adults with late-onset Pompe disease, a genetic condition that causes progressive muscle weakness. Participants who completed a prior S-606001 study can join, and they will rec…

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 study looks at whether diazoxide, a drug that reduces insulin release, can help children with type 1 glycogenosis maintain steadier blood sugar levels. Type 1 glycogenosis is a rare inherited condition where the body cannot properly release glucose from stored glycogen, lead…

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 trial tests whether a less intensive antiplatelet therapy is safer and as effective as standard dual therapy for people with spontaneous coronary artery dissection (SCAD), a rare cause of heart attack in women aged 30–55. Unlike typical heart attacks, SCAD involves a tear in…

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 early-stage study tests whether high-dose Vitamin C is safe for people with two rare inherited blood disorders—Pyruvate Kinase Deficiency (PKD) and a form of G6PD deficiency. Both conditions cause red blood cells to break down too quickly, leading to anemia. The study will e…

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 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 trial tests whether taking coenzyme Q10 (CoQ10) for 10 weeks can improve biological resilience in adults aged 65 and older who show early signs of frailty. Participants will be randomly assigned to receive either 200 mg of CoQ10 daily or a placebo. The study will measure cha…

Researchers at Hacettepe University are studying how aerobic fitness and meal timing affect the body's use of fat and carbohydrates during exercise, and how immune cells called peripheral blood mononuclear cells (PBMCs) respond. Thirty healthy young men, split into high and low f…

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…

This study looks at whether eating a breakfast with two types of carbohydrates (glucose and fructose) can increase glycogen stored in the liver. Twelve healthy male athletes will be tested after different breakfasts using MRI scans and blood samples. The goal is to learn the best…

This study tests whether a drink made from broccoli sprouts can improve how well endurance athletes perform and recover after cycling. Thirty healthy adults who exercise regularly will drink either the broccoli sprout drink or a placebo at different times before a cycling test. R…

This study will look at 3000 young Asians in Singapore who do not have diabetes yet. Researchers will use blood tests, glucose monitors, food diaries, and body measurements to find better ways to detect diabetes early. The goal is to create new risk tools to identify young people…