Mitochondrial oxidative phosphorylation disorder

This phase 2 study tests a combination of two nucleoside drugs, doxecitine and doxribtimine, in 47 people with thymidine kinase 2 (TK2) deficiency, a rare genetic disorder that weakens muscles. Participants already receiving nucleoside therapy continue treatment to see if the dru…

This program offered vatiquinone, an experimental liquid medication, to patients with inherited mitochondrial diseases like Leigh syndrome who had already completed a previous safety study. The goal was to continue treatment for those who might benefit, but enrollment is now clos…

This study tests whether a person's own stem cells can be safely injected into the spinal fluid to treat multiple system atrophy (MSA), a rare and serious brain disease. About 30 adults aged 30-80 with MSA will receive the treatment. The main goal is to check for side effects, an…

This study tests whether high-dose nicotinamide (vitamin B3) is safe and can help people with dominant optic atrophy, a rare genetic disease that slowly damages the optic nerve and causes vision loss. Researchers will give 25 adults 3 grams of nicotinamide daily and monitor for s…

This study tests the drug sirolimus (rapamycin) in 15 people aged 6 months to 55 years with genetically confirmed Leigh syndrome, a rare and serious mitochondrial disease. The goal is to see if the drug is safe and can help with symptoms like muscle weakness and developmental del…

This study is testing a new device called a multichannel vestibular implant for people who have lost most or all of their balance function due to inner ear damage. The implant electrically stimulates the balance nerve to help improve stability and vision during movement. Up to 30…

This expanded access program gave a single patient with Leber Hereditary Optic Neuropathy (a genetic cause of vision loss) an experimental gene therapy called GS010. The treatment was injected into both eyes to test safety. Only one person was involved, so the results are very li…

This phase 3 trial tests a gene therapy called NR082 for Leber's hereditary optic neuropathy (LHON), a genetic condition that causes rapid vision loss. About 95 people aged 12 to 75 with a specific ND4 mutation will receive a single injection of the therapy or a sham procedure. T…

This study tests two natural substances, deoxythymidine and deoxycytidine, in people with TK2 deficiency, a rare genetic condition that causes muscle weakness and breathing problems. The goal is to see if these nucleotide precursors can help cells make more mitochondrial DNA and …

This study tests a new medicine called PYC-001, given as an injection into the eye, for people with a genetic condition that damages the optic nerve (OPA1 optic atrophy). The main goal is to check if the treatment is safe and tolerable. About 18 adults will receive a single dose,…

This study tests a personalized workplace intervention for 124 Dutch workers with Parkinson's disease, cerebellar ataxia, hereditary spastic paraparesis, or slowly progressive neuromuscular/mitochondrial disorders. A trained facilitator helps employees and their managers identify…

This study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…

This study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

This study follows up to 90 children and young adults with mitochondrial liver diseases to learn how these conditions progress over time. Researchers will collect medical data and samples to better understand the diseases and find markers that predict outcomes. The goal is to imp…

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…

This study uses special MRI scans to measure how well muscles produce energy in people with mitochondrial disease. Researchers hope to learn more about the condition and develop a new tool to help diagnose and track it. The study involves 230 participants aged 7 to 75 with suspec…

This study aims to discover new genetic mutations that cause mitochondrial disorders by analyzing tissue samples from up to 6,900 participants. It includes people with suspected or known mitochondrial diseases, such as MELAS or Leigh's Disease, who lack a genetic diagnosis. The r…

This study looks at how problems with mitochondria—the tiny power plants inside cells—might affect bone health. Researchers will compare 30 people with certain genetic changes that cause mitochondrial dysfunction to healthy volunteers. They will take blood, bone marrow, and bone …