Mitochondrial oxidative phosphorylation disorder

This study tests whether injecting a person's own bone marrow stem cells into or near the eye can help treat various retinal and optic nerve diseases, including age-related macular degeneration, retinitis pigmentosa, and glaucoma. Participants receive stem cell injections via dif…

This early-stage study tests a new medicine called PYC-001, given as an injection into the eye, for people with a rare genetic eye disease (autosomal dominant optic atrophy) caused by a change in the OPA1 gene. The main goal is to check the safety of different doses and schedules…

This phase 3 trial tests an experimental drug called sepofarsen in 32 people with Leber congenital amaurosis (LCA), a rare genetic condition that causes severe vision loss from birth. The drug is injected into one eye, while the other eye gets a placebo, to see if it safely impro…

This program provides access to two experimental drugs, doxecitine and doxribtimine, for people with thymine kinase 2 deficiency (TK2d), a rare genetic disorder that can cause severe muscle weakness and early death. It is for children and adults who have a confirmed TK2 gene muta…

This study tests whether a high-quality form of coenzyme Q10, a natural substance, can help reduce symptoms and improve daily life in veterans with Gulf War illness. Researchers will compare the supplement to a placebo in 192 veterans. The goal is to see if this approach offers a…

This study follows 15 adults (ages 22–90) with severe, long-term balance disorders caused by inner ear damage. Participants have already received a vestibular implant, a device that electrically stimulates the balance nerve to help restore steadiness and clear vision during movem…

This study tests a gene therapy called GS010 for people with Leber hereditary optic neuropathy (LHON), a genetic condition that causes rapid vision loss. Researchers will give the treatment as an injection into the eye at two different doses to see if it improves vision and mitoc…

This study tests whether adding a daily probiotic tablet and a coenzyme Q10 toothpaste to standard gum cleaning can improve oral health in pregnant women. Forty pregnant women will be split into two groups: one gets the probiotic plus Q10 toothpaste, the other gets only the Q10 t…

This study tests a vestibular implant in 15 older adults (ages 65-90) with chronic balance issues due to bilateral vestibular hypofunction. The implant electrically stimulates the inner ear to improve balance and vision. Researchers will measure changes in gait and eye reflexes o…

This study tests a vestibular implant, a device surgically placed in the inner ear to electrically stimulate balance nerves. It aims to improve balance, posture, and vision in up to 8 adults with bilateral vestibular hypofunction, a condition causing chronic dizziness and instabi…

This study tests whether the drug sonlicromanol can reduce fatigue and improve physical abilities like balance and leg strength in adults with a specific genetic form of mitochondrial disease. About 220 participants will take either the drug or a placebo twice daily for 52 weeks.…

This Phase 2 trial tests whether KL1333 can reduce fatigue and improve leg strength in adults with primary mitochondrial disease, a genetic condition that affects energy production. About 180 participants will receive either KL1333 or a placebo twice daily for 48 weeks. The study…

This study tests a 12-week supervised rehabilitation program for people with two rare genetic conditions that cause walking and balance problems (spastic ataxias). The program includes twice-weekly therapy sessions and once-weekly pool exercises. Researchers want to see if it red…

This study at the National Institutes of Health looks at how infections can worsen symptoms in people with mitochondrial disease, a group of disorders that affect energy production in cells. Researchers will evaluate participants' immune systems through blood tests, physical exam…

This study creates a global registry for people with mitochondrial disorders—rare diseases that affect energy production in cells. By collecting health data from 6,000 participants worldwide, researchers aim to understand how these diseases progress and identify the best ways to …

This registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …

This study is creating a large digital registry to find and understand rare forms of diabetes caused by a single gene (monogenic diabetes). Researchers will enroll up to 5,000 people in China who were diagnosed with diabetes at a young age and test their DNA. The goal is to learn…

This study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…

This study collects DNA from up to 1,000 adults with progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), multiple system atrophy (MSA), or related conditions, plus their family members. Researchers will sequence participants' whole genomes to find genetic variants …

This study is testing a new non-invasive device that uses laser speckle to measure blood flow and structure inside the eye. Researchers will compare these images with standard vision tests in 500 people with various retinal conditions. The goal is to see if this technology can be…

This study looks at people who carry genetic changes linked to Leber Hereditary Optic Neuropathy (LHON) but still have normal vision. Researchers want to see if certain chemicals in the blood and tears can signal early nerve damage in the eye, before vision loss occurs. The goal …

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

This study collects blood and skin samples from 100 people with primary mitochondrial diseases and healthy volunteers aged 3 to 85. Researchers will study how different mitochondrial mutations affect cell function and look for biomarkers. The samples will also help test a new the…