Hereditary optic neuropathy

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 study tests a new gene therapy for children with a severe inherited bone disease called osteopetrosis. The therapy uses the child's own blood stem cells, modified to fix the genetic defect, and then returned to the body. The goal is to improve blood cell production and survi…

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 early-stage trial tests an oral drug called DF-003 in 12 people with ROSAH syndrome, a rare genetic condition causing eye inflammation, enlarged spleen, and headaches. The main goal is to check safety and how the body processes the drug, while also watching for improvements …

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 phase 3 trial tests whether a daily injection of setmelanotide can help people aged 4 and older with hypothalamic obesity lose weight and feel less hungry. Participants will receive either the drug or a placebo for 26 weeks. The study aims to see if the treatment leads to me…

This study tests whether showing cartoon video clips and using character voices during a visual field test can help children aged 5-8 stay focused and give more reliable results. Twenty children with certain eye conditions will be tested twice, once with the cartoon intervention …

This study aims to learn more about the genetics and natural history of autoinflammatory diseases, which cause repeated fevers and inflammation. Researchers will study up to 5,000 people, including patients, their relatives, and healthy volunteers. Participants provide blood and …

This study screens people with eye diseases to see if they can join other research studies at the National Eye Institute. No treatment is given. Participants undergo eye exams, blood tests, and other procedures to diagnose or evaluate their condition. The goal is simply to determ…

This study tests a special camera that takes super-detailed pictures of the back of the eye (the retina). The goal is to see if this technology can find eye diseases earlier than standard methods. Up to 1,000 people aged 12 and older, with or without eye disease, will have their …

This study aims to learn more about eye diseases by observing and providing standard care to up to 1,000 people over 5 years. Participants receive regular eye exams, tests, and treatments as needed. The goal is to better understand how eye diseases progress and are inherited, not…

This study tests whether artificial intelligence can create simple summaries of eye doctor notes that are easier for patients to understand. About 460 English-speaking adults receiving eye care will get either standard notes or notes plus an AI-generated plain language summary. P…

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 tests a new 4D microscope-integrated OCT system for the first time in people during eye surgery. Researchers want to see if the system is easy to use, safe, and can clearly show eye structures. Five adults having eye surgery will take part. The goal is to improve imagi…

This study gathers standard eye movement and pupil data from 200 healthy volunteers, children, and people with eye or brain conditions using a VR headset called neos™. The headset shows images and tracks where participants look, how their pupils react, and how their eyes move. Th…

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 tests a new, more comfortable eye camera (WiSLO) designed for children and adults. Researchers want to see if it takes better pictures and is less bothersome than current cameras. About 42 people with or without eye disease will have their eyes photographed with both t…