Hereditary macular dystrophy

This Phase 3 trial tests an oral drug called gildeuretinol acetate (ALK 001) in 230 people aged 8 to 45 with Stargardt disease, a genetic condition that causes progressive vision loss. Participants take the drug or a placebo daily for 24 months. The goal is to see if the drug can…

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 Phase 2 study tests atacicept, a drug that may reduce immune system attacks on the kidneys. About 250 adults with various autoimmune kidney diseases (like IgA nephropathy or membranous nephropathy) will receive weekly injections. Researchers will check safety and measure cha…

This study tests a gene therapy called AAVB-039 for Stargardt disease, an inherited condition that causes vision loss. About 75 adults with a specific gene mutation will receive a single injection under the retina. The main goal is to check safety, but researchers will also measu…

This early-stage study tests a new treatment called C.001 for people with retinal diseases that cause vision loss, such as geographic atrophy and Stargardt disease. The treatment is given as a single injection into the eye. The main goal is to check if it is safe, and researchers…

This study tests an oral drug called sparsentan in 67 children with certain kidney diseases that cause protein to leak into urine. The goal is to see if the drug safely reduces protein levels over 108 weeks. Participants must have a certain level of kidney function to join.

This study tests whether a purine-rich diet can lower disease markers in people with AICA-ribosiduria, a rare genetic condition causing severe disability and epilepsy. Ten participants will follow a diet with 160 mg of purines per day. Early results in one patient showed promise,…

This early-stage trial tests a gene therapy called ZVS106e for Stargardt disease, a genetic condition that causes vision loss. Nine participants will receive a single injection of the drug under their retina. The main goal is to check safety over 52 weeks, not yet to prove it wor…

This early-stage trial tests a single injection of a gene therapy called RTx-021 in the eye of people with Stargardt disease, a genetic condition that causes vision loss. Up to 18 participants will receive different doses to check safety and tolerability. Researchers will monitor…

This study tests a device called PRIMA, which is implanted under the retina to help people with inherited retinal diseases like Stargardt disease and retinitis pigmentosa see better. The trial will enroll 5 adults with severe central vision loss and measure improvements in visual…

This early-stage trial tests a gene therapy called OPGx-BEST1 for two rare inherited eye diseases that cause vision loss. About 10 adults will receive a single injection into one eye to see if it is safe and to find the best dose. The study will follow participants for 5 years to…

This early-phase trial tests a new gene therapy called VG801 for Stargardt disease, a genetic condition that causes vision loss. Fifteen people aged 6 and older will receive a single injection under the retina. The main goal is to check safety, but researchers will also measure a…

This early study tests a new gene therapy called ACDN-01 for people with Stargardt disease, a genetic condition that leads to progressive vision loss. The therapy is given as a one-time injection under the retina. The main goals are to check safety and find the right dose, with a…

This study tests a new eye imaging device (VG200D OCT) that takes detailed pictures of the retina. It compares these images to standard dye-based images (FA/ICGA) to see if the new device works just as well. About 30 adults with retina problems will take part. The goal is to see …

This study tests a special camera that takes detailed images of the retina using many wavelengths of light. Researchers hope it can find early signs of eye diseases like age-related macular degeneration, diabetic retinopathy, and glaucoma. About 1,000 adults in Melbourne, Austral…

This study is testing a new eye imaging device called the VG200D, which uses advanced technology to take detailed pictures of the eye. Researchers want to see if it works as well as a standard device for measuring parts of the eye in people with glaucoma, retina problems, corneal…

This study tests whether adding emotional regulation therapy (ERT) to standard low vision rehabilitation (LVR) helps people with inherited retinal diseases who feel anxious or distressed about their vision. About 180 participants will receive LVR, which includes free vision-enhan…

This study tests whether a gentle electrical brain stimulation, called a-tDCS, can make reading training more effective for people with age-related or juvenile macular degeneration. About 30 participants will do six reading training sessions while receiving either real or fake st…

This study looks at whether disulfiram (Antabuse), a drug used for alcohol use disorder, can improve vision in people with retinal degeneration (like macular degeneration or retinitis pigmentosa). Researchers believe it may calm overactive cells in the retina. The study involves …

This study is creating a large collection of health information and biological samples (like blood, saliva, and eye tissue) from people with and without retinal diseases. Researchers aim to use this database to better understand conditions like age-related macular degeneration an…

This international study aims to collect genetic and health information from 1,500 people with rare inherited retinal diseases like retinitis pigmentosa. It has two parts: a registry to gather genetic and vision data, and a natural history study that follows participants over tim…

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 follows 90 children and adults with Stargardt disease or similar inherited eye conditions to see how their vision changes over 2 years. Participants will have regular eye exams and imaging every 6 months. No treatment is given—the goal is to better understand the natur…

This study collects skin, hair, blood, urine, or saliva samples from people with certain eye diseases (like macular degeneration) and from healthy volunteers. Researchers will turn these samples into stem cells in the lab to study how the diseases develop and to test potential ne…

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 is for people with rare kidney diseases like Minimal Change Disease, Focal Segmental Glomerulosclerosis, and Membranous Nephropathy. Researchers will collect health information and biological samples from 1,200 participants over many years. The goal is to better unders…

This study helps people with certain kidney diseases (like nephrotic syndrome and FSGS) find clinical trials that match their specific disease profile. Researchers analyze participants' molecular data to recommend targeted therapies in ongoing trials. The goal is to improve treat…

This study aims to collect DNA samples and detailed eye exam data from 1,000 people with rare inherited eye diseases like aniridia, Best disease, and albinism. Participants provide a saliva or blood sample and share their eye health records. The goal is to expand a research repos…

This early-stage study is testing a new oral drug called SK-09 in 72 healthy adults to see if it is safe and how the body processes it. The study is split into two parts: one where participants get a single dose, and another where they get multiple doses. No one knows who gets th…

This study uses a special camera called an Adaptive Optics Scanning Laser Ophthalmoscope (AOSLO) to take very detailed pictures of the retina in people with inherited retinal diseases like retinitis pigmentosa. Researchers will measure how the light-sensitive cells in the eye cha…

This study follows 25 people aged 10 and older with Stargardt-like macular dystrophy (STDG3), a rare inherited eye disease that causes vision loss. Over three years, researchers will measure changes in the retina using eye exams, imaging, and vision tests. The goal is to understa…

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 looks at how well people with retinal diseases like retinitis pigmentosa and Stargardt's disease see in the dark. Researchers want to find out if measuring dark adaptation can help detect and track these conditions. Healthy volunteers and people with retinal disease ag…

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 uses special cameras to take ultra-detailed pictures of the back of the eye in people with retinal diseases like macular degeneration and retinitis pigmentosa. Researchers aim to develop new ways to diagnose and track these conditions by measuring cell density and func…

This study uses a special camera called an adaptive optics scanning laser ophthalmoscope to take incredibly detailed pictures of the retina, the light-sensitive layer at the back of the eye. Researchers will compare images from healthy people and those with eye diseases like Star…

This study is collecting medical information and biological samples (like blood, urine, and kidney tissue) from 300 people with FSGS or MCD who have had or will have a kidney transplant. The goal is to build a research biobank called RESOLVE to help scientists study why these dis…

This study uses a special camera (adaptive optics) to take detailed pictures of the back of the eye in people with inherited retinal diseases. Researchers want to see how individual cells change over time and after treatments. About 200 participants aged 5 to 70 will be observed,…

This study enrolls 25 people with severe retinal diseases like retinitis pigmentosa and Stargardt disease to test new ways of measuring visual function. Researchers will evaluate how well participants can perform various vision tests, such as navigating obstacles or detecting lig…

This prescreening study aims to identify up to 50 people with ABCA4-related retinopathy, including Stargardt disease, for possible participation in future ACDN-01 clinical trials. Participants will undergo genetic testing and various eye exams to confirm their condition. This is …

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 a global registry for people with Castleman disease, a rare lymph node disorder. Researchers will collect medical records, lab results, and patient surveys from up to 1,000 participants to better understand symptoms, treatments, and outcomes. No experimental drug or…

This early-phase trial tests the safety of an oral drug called DC6001 in 76 healthy adults. Researchers will give single or multiple doses to see how the body handles the drug and if it causes side effects. This study does not involve people with Stargardt disease and is not desi…

This study gathers eye scan images from 180 people with healthy eyes or eye diseases like glaucoma and retinal disease. The goal is to collect data using a new optical coherence tomography (OCT) device called A10900. No treatment or medication is given. The information will help …

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 is a registry that collects health information from people in Switzerland who have neuromuscular disorders like SMA, DMD, BMD, and others. It aims to track symptoms, treatments, and outcomes over time to help researchers and doctors improve care. No new treatments are …

This study looks at how color vision changes over time in people with inherited retinal diseases (IRDs). Researchers will study 200 participants, including those with IRDs and healthy volunteers, to see how color vision loss relates to changes in the retina's structure. They are …

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 tests a high-resolution imaging system to see tiny structures in the eye that routine tools cannot detect. Researchers will scan 1,200 people with various eye conditions and healthy volunteers. The goal is to better understand diseases like glaucoma, diabetes, and reti…

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…

This observational study will follow 75 people aged 12 to 65 with Stargardt disease type 1, a genetic eye condition that causes vision loss. Researchers will use eye exams and imaging to track how the disease changes over time. The goal is to better understand the disease's progr…

This registry is gathering health information and biological samples from 500 people with focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD), two rare kidney conditions. Researchers will track participants over 10 years to understand how these diseases prog…